Introduction
Glycogen storage disease type II, also known as Pompe disease, is a rare and progressive neuromuscular disorder inherited in an autosomal recessive manner. This disease results from a deficiency of the enzyme acid α-glucosidase (GAA), causing impairment in the degradation of glycogen within the lysosomes of the muscular tissue.[1][2]
The clinical presentation of glycogen storage disease type II varies widely depending on the age of symptom onset, the degree of GAA deficiency, and the specific mutations involved.[3] Two phenotypes are described: infantile-onset Pompe disease (IOPD), which is the classic and more severe form, and late-onset Pompe disease (LOPD), which may manifest later in childhood or adulthood. IOPD typically presents within the first few months of life with severe symptoms, eg, hypotonia, hypertrophic cardiomyopathy, and respiratory failure; this last symptom remains the leading cause of mortality.[4] LOPD presents more insidiously, often with proximal muscle weakness and eventual respiratory insufficiency due to diaphragm involvement, while cardiac and gastrointestinal symptoms are rare.[5]
Pompe disease diagnosis is confirmed through genetic testing, identifying pathogenic mutations in the GAA gene, and enabling the cross-reactive immunologic material (CRIM) status determination. CRIM status is crucial for assessing residual GAA protein production and is strongly associated with prognosis and response to enzyme replacement therapy.[6][7][8] Early detection and treatment, particularly in newborns, significantly alter the disease course, with enzyme replacement therapy (ERT) remaining the cornerstone of management.[9]
Etiology
Register For Free And Read The Full Article
Search engine and full access to all medical articles
10 free questions in your specialty
Free CME/CE Activities
Free daily question in your email
Save favorite articles to your dashboard
Emails offering discounts
Learn more about a Subscription to StatPearls Point-of-Care
Etiology
Glycogen storage disease type II is an autosomal recessive condition resulting from pathogenic variants in both copies of the GAA gene. This gene is located on the long arm of chromosome 17 (17q25.2-q25.3) and encodes for the GAA enzyme, which is responsible for catalyzing the breakdown of glycogen in lysosomes through α-1,4 and α-1,6 linkages (see Image. Glycogen, Free Glucose Release, and Glycogen Storage Diseases).[10][11] Mutations in the GAA gene lead to the production of unstable mRNA, which impacts several processes, including protein synthesis, posttranslational modifications, lysosomal trafficking, and the proteolytic function of the GAA enzyme.[12]
Epidemiology
Glycogen storage disease type II incidence varies widely, with certain populations showing notably higher rates. For example, in French Guiana, the incidence is approximately 1 in 2,000 people, followed by Taiwan at about 1 in 15,000 people, both of which reflect data from national newborn screening (NBS) programs.[13][14] In Austria and the United States, where NBS strategies have also been implemented, the combined incidence of early and late-onset forms is estimated at 1 in 8,686 and 1 in 21,979 people, respectively.[15][16] In the Netherlands, screening of newborn blood spots indicated an incidence of GAA deficiency at around 1 in 40,000.[17] In countries without NBS, the incidence may be underestimated, as undiagnosed cases remain uncounted.
Pathophysiology
Pompe disease is driven by lysosomal glycogen accumulation due to GAA enzyme deficiency, leading to lysosomal rupture and the release of glycogen and other toxic materials into the cytoplasm. This cascade of reactions disrupts muscle architecture and causes progressive myofiber damage, with some fibers showing severe abnormalities while others remain unaffected.[18]
Another important aspect of the disease is the accumulation of autophagic debris which results from excessive autophagosome formation combined with impaired fusion of these vesicles with lysosomes. This failure in lysosomal degradation leads to the buildup of undigested cellular components, contributing to oxidative stress, mitochondrial dysfunction, and further disruption of muscle fiber integrity.[19][20] Additionally, disruptions in cellular signaling pathways, including the AMPK and mTORC1 pathways, further impact muscle function. AMPK activation reflects an energy-deficient state, while reduced mTORC1 activity affects protein synthesis and muscle maintenance.[21][22]
History and Physical
The clinical presentation of glycogen storage disease type II varies widely and is influenced by the age at which symptoms appear. The degree of clinical severity, the extent of tissue damage, and the timing of onset are closely related to the specific mutations involved and the remaining GAA enzymatic activity.[3] The glycogen storage disease type II phenotypes that have been described are IOPD, the classic and more severe type, and LOPD, which can manifest in both childhood and adulthood.
Infantile-Onset Pompe Disease Clinical Features
IOPD usually presents at birth or within the first few months of life.[4] Common problems are hypotonia and muscle weakness with subsequent motor delay (96%), cardiomegaly (92%, commonly hypertrophic cardiomyopathy)[1], hepatomegaly (90%), macroglossia (62%), poor feeding and failure to thrive (53% to 57%); respiratory infections or dyspnea lead to respiratory failure, which is the most common cause of death in this population.[23] The electrocardiogram may show a short PR interval with wide QRS complexes in all leads. High-amplitude QRS complexes result from biventricular hypertrophy. The disease has also been associated with hearing loss.
Late-Onset Pompe Disease Clinical Features
LOPD patients often show symptoms that emerge in childhood or later and frequently present with musculoskeletal complications. Proximal muscle weakness, particularly in the lower limbs, is reported in about 58.7% of cases at diagnosis. Symptom progression is slower, but ultimately, respiratory failure may occur due to diaphragm involvement.[24] Cardiac or gastrointestinal symptoms are uncommon; however, some adults may develop arterial complications. A history of "clumsiness" while performing physical activities would be a clue for diagnosing this illness in adolescents or adults.
Evaluation
Pompe disease diagnosis is primarily based on enzymatic and genetic testing, with additional diagnostic tools used to support the findings. Early detection is critical, especially in newborns, as the absence of treatment can lead to death within the first year of life.[25]
Acid α-Glucosidase Enzyme Activity
The cornerstone of glycogen storage disease type II diagnosis is the measurement of lysosomal GAA enzyme activity.[26][27][28] Modern diagnostic protocols favor minimally invasive methods to detect GAA activity, eg, testing in dried blood spot (DBS) samples or leucocytes in liquid blood.[29] These assays are sensitive and reliable, though they can be complicated by interference from maltase glucoamylase, another enzyme active at acidic pH that may mask GAA deficiency. To overcome this challenge, inhibitors (eg, acarbose selectively) inhibit maltase glucoamylase, enhancing the specificity of the GAA test.[30]
Abnormal enzyme activity detected in blood samples requires confirmation through additional testing, either by measuring enzyme activity in a different tissue type (eg, skin fibroblasts or muscle) or by conducting molecular genetic testing.[31][32]
Genetic Analysis
Genetic analysis is crucial to confirm glycogen storage disease type II diagnosis and identify pathogenic mutations in the GAA gene. Over 500 described mutations in the GAA gene have been identified, with some common variants associated with specific disease phenotypes. For example, the c.-32-13T>G splice mutation is the most common variant in patients with LOPD, with an allele frequency ranging from 40% to 70%.[33][34]
Genetic testing can also help determine the CRIM status, indicating the amount of residual endogenous GAA production in patients with infantile-onset Pompe disease. This information is important as it can influence both the prognosis and the response to ERT. The CRIM-positive group has detectable GAA protein and typically shows a better response to treatment, while CRIM-negative patients lack detectable GAA protein and tend to have a worse prognosis.[6][7][8]
Unspecific and Supportive Tests
In addition to GAA enzyme activity and genetic analysis, several unspecific laboratory tests can provide supportive information. For example, elevated levels of serum creatine kinase (CK), aspartate aminotransferase (AST), and lactate dehydrogenase (LDH) may be observed in some glycogen storage disease type II patients, although these markers can also be normal.[35]
Another potential biomarker for glycogen storage diseases is urinary excretion of tetrasaccharide 6-α-D-glucopyranosyl-maltotriose, which is increased in IOPD and other various conditions associated with glycogen turnover and, therefore, unspecific.[36] Histological findings, eg, the presence of periodic acid-Schiff-positive vacuolated lymphocytes and positive staining with acid phosphatase in a muscle biopsy observed under light microscopy, can also support a glycogen storage disease type II diagnosis.[32]
Treatment / Management
Treatment of Infantile-Onset Pompe Disease
The development of ERT with alglucosidase alfa marked a significant advancement for IOPD patients, significantly improving survival, ventilator-free life, and cardiac health.[9][37] Initial clinical studies showed that alglucosidase alfa was effective in extending life expectancy and reducing the need for mechanical ventilation, especially when administered at 20 mg/kg every 2 weeks, which was well-tolerated.[38][39] Higher doses (eg, 40 mg/kg) demonstrated even better motor outcomes and ventilator-free survival in studies, although adverse effects were slightly more frequent, highlighting the importance of optimizing dosing for each patient.[38][40][39](A1)
Early initiation of ERT is crucial for maximizing outcomes, as delaying treatment past the first few months of life is associated with a less favorable prognosis.[41][42] In a pilot NBS program, early detection through dried blood spot testing allowed for the initiation of ERT within days of diagnosis, leading to improved survival and motor function among infants compared to untreated historical controls.[37] Furthermore, CRIM-negative patients, who are prone to immune reactions due to a lack of residual endogenous GAA production, benefit from immunomodulation combined with ERT to prevent adverse immunologic responses that could otherwise diminish treatment efficacy.[6]
Treatment of Late-Onset Pompe Disease
ERT with alglucosidase alfa has also been shown to improve motor and respiratory functions in LOPD patients, albeit with varying degrees of response based on the timing of treatment initiation and individual patient factors.[43] A phase 3 study demonstrated that ERT improved exercise capacity and respiratory function, as measured by the 6-minute walk test and forced vital capacity.[44] However, studies have indicated that while ERT initially improves motor and respiratory functions, the benefits may plateau after a few years, emphasizing the need for ongoing monitoring to assess disease progression and adjust the treatment regimen as necessary.[43][45](A1)
Avalglucosidase alfa, a newer form of ERT, has shown potential as an alternative, with studies suggesting improved uptake in skeletal muscle due to modifications that increase affinity for muscle receptors. The COMET trial demonstrated comparable efficacy between avalglucosidase and alglucosidase in respiratory outcomes, although it did not achieve statistical superiority.[46] This variant received approval for LOPD treatment in 2021, with dosing based on body weight.[47](A1)
Emerging Therapeutic Approaches
Beyond ERT, additional therapeutic strategies are being explored to enhance efficacy and reduce side effects:
-
Pharmacological chaperone therapy: Chaperone therapy uses small molecules to stabilize the GAA enzyme, increasing cell activity. Studies show that combining ERT with chaperones (eg, miglustat) can boost and extend GAA activity, though further clinical data is needed to confirm these benefits.[48][49]
-
Gene therapy: Gene therapy aims to deliver a functional GAA gene using viral vectors like AAV and lentivirus and seeks to address ERT limitations. Preclinical and initial studies in animal models and small patient groups show encouraging results for reducing glycogen accumulation, especially in cardiac and skeletal muscle, although issues like toxicity and immune response remain challenging.[50][51]
-
Substrate reduction therapy: Another experimental strategy is inhibiting glycogen synthesis to limit its buildup in tissues. Glycogen synthase antagonists and antisense oligonucleotides targeting the Gys1 gene are being tested in animal models, showing initial positive effects.[52][53]
(A1)
Differential Diagnosis
The differential diagnosis for IOPD includes:
- Spinal muscular atrophy 1: Differs from IOPD because no cardiac muscle is involved
- Danon disease: Differs from IOPD because inheritance is X-linked [54]
The differential diagnosis for LOPD includes:
- Limb-girdle muscular dystrophy: Differs from LOPD because axial muscles are not affected
- Duchenne-Becker muscular dystrophy: Differs from LOPD because inheritance is X-linked
- Other glycogen storage disorders: May be considered; mainly differentiated by a lack of hypoglycemia in glycogen storage disease type II (see Image. Glycogen Storage Disease Types)
Prognosis
Prognosis and Long-Term Considerations
The prognosis for IOPD patients has improved significantly with ERT, but long-term survivors often experience progressive symptoms that ERT does not entirely prevent. These include cognitive impairments due to glycogen buildup in the brain, as well as sensorineural hearing loss.[55][56][57] For LOPD patients, while ERT slows progression, some patients eventually require ventilatory support or become wheelchair-dependent, underscoring the need for improved and timely therapies.[58][45]
In response, ongoing research is exploring next-generation treatments, including improved ERT options such as cipaglucosidase (a novel recombinant human acid α-glucosidase) combined with miglustat (an enzyme stabilizer) for LOPD, as well as experimental gene therapy strategies aimed at overcoming current ERT limitations.[49][59] Further studies are needed to confirm the effectiveness of these therapies and provide insights into optimal long-term management for both IOPD and LOPD.
Complications
Complications of Pompe Disease
Pompe disease, in both IOPD and LOPD forms, presents a wide range of complications, particularly respiratory, due to progressive muscle weakness.[60] Immune responses to treatment, especially in CRIM-negative patients, are also well-known complications.[61]
Respiratory complications include diaphragm weakness, reduced cough strength, and impaired airway clearance, ultimately leading to recurrent respiratory infections and aspiration pneumonia.[62][63] Sleep-disordered breathing, such as obstructive sleep apnea and nocturnal hypoventilation, are common and contribute to reduced sleep quality, morning headaches, and excessive daytime sleepiness.[64] In IOPD, even with early initiation of ERT, airway abnormalities such as tracheobronchomalacia and macroglossia persist, potentially exacerbating respiratory failure.[65] Furthermore, additional interventions such as noninvasive ventilation and advanced airway clearance techniques are important aspects of patient management.[66]
Adverse effects related to ERT itself include mild to moderate infusion-related reactions, as well as severe outcomes such as anaphylaxis and immune-mediated respiratory decline in some CRIM-negative patients.[44]
Consultations
Managing late-onset glycogen storage disease type II disease requires a collaborative, interprofessional approach by key consultants to address its diverse and progressive manifestations. Key specialists include:
- Neurologist: Neurologists oversee the progression of proximal muscle weakness and coordinate comprehensive care plans. They monitor the effects of ERT on muscle strength and guide the management of neuromuscular complications, including fine and gross motor impairments.[54]
- Pulmonologist: Pulmonologists are critical in managing respiratory complications, including diaphragm weakness and sleep-disordered breathing. Regular pulmonary function assessments, eg, forced vital capacity in upright and supine positions, are essential to monitoring disease progression.[54][67] Pulmonologists also guide the initiation of noninvasive ventilation for patients with nocturnal hypoventilation or significant respiratory muscle weakness.[68]
- Physical therapist: Physical therapists design individualized exercise programs to preserve motor function, prevent contractures, and address musculoskeletal impairments. Therapeutic exercise should begin with mild to moderate aerobic activity and progress gradually, closely monitoring heart rate, oxygen saturation, and perceived exertion.[54][69] Physical therapists also guide the use of adaptive equipment, eg, walkers or ankle–foot orthoses, and educate patients on home-based exercise programs.[54][70]
Additional specialists may include:
An interprofessional team may also involve orthopedic specialists to address scoliosis, contractures, and limb deformities, occupational therapists to improve daily living activities and suggest adaptive equipment, and endocrinologists to oversee osteoporosis management and bone health.[71][72] Dietitians optimize nutrition and manage feeding difficulties, while speech therapists provide support for swallowing difficulties. Social workers and genetic counselors address psychosocial needs and family considerations.[54]
Deterrence and Patient Education
Educating caregivers and clinicians is crucial in improving outcomes for Pompe disease by promoting early detection and adherence to treatment protocols. Newborn screening plays a vital role in identifying IOPD before symptoms develop, allowing for the timely initiation of enzyme replacement therapy, significantly improving survival, and reducing the need for mechanical ventilation. Additionally, reinforcing the necessity of adherence to ERT, routine monitoring for disease progression, and the use of supportive therapies, such as physical and respiratory therapy, are essential steps for optimizing long-term outcomes and reducing complications.
Pearls and Other Issues
Newborn Screening
NBS for Pompe disease is essential for early diagnosis and timely treatment, especially for IOPD, where early initiation of enzyme replacement therapy significantly improves survival and reduces the need for mechanical ventilation.[37] In several countries, including Taiwan, Japan, and some states in the United States, NBS is widely implemented, utilizing dried blood spots to measure α-glucosidase enzyme activity through fluorometry, tandem mass spectrometry, or digital microfluidic fluorometry.[73][74][75]
According to Prosser et al, implementing NBS for 4 million infants annually in the United States could detect approximately 134 cases of glycogen storage disease type II, including 40 cases of IOPD, compared to only 36 cases identified through clinical presentation alone. NBS would also uncover 94 cases of LOPD, many of which might remain asymptomatic for years or even decades. Screening for IOPD specifically could help prevent 13 deaths and identify 26 children at risk of requiring mechanical ventilation by the age of 36 months.[76] To confirm the diagnoses, GAA is crucial, particularly for IOPD cases where specific mutations are associated with severe clinical manifestations.[77]
In the United States, including Pompe disease screening in the Recommended Uniform Screening Panel (RUSP) in 2015 marked a milestone, enabling the early identification of IOPD and LOPD cases before symptom onset, which can significantly improve outcomes.[37][76] Despite advancements, challenges remain in standardizing enzyme activity cutoff values and reducing false-positive results.[78]
Enhancing Healthcare Team Outcomes
The management of glycogen storage disease type II, a rare and progressive lysosomal storage disorder, requires an interprofessional approach to optimize patient-centered care, improve outcomes, and enhance team performance. Early diagnosis and treatment are critical, particularly for IOPD, where delayed ERT significantly worsens prognosis. LOPD also demands coordinated care to address progressive musculoskeletal and respiratory complications.
Healthcare professionals must possess the clinical skills to identify Pompe disease early, interpret enzymatic and genetic testing results, and initiate evidence-based interventions. The interprofessional team collaborates to implement individualized care plans tailored to each patient’s unique needs. This includes using ERT, managing immune responses in CRIM-negative patients, and supportive therapies like physical and respiratory therapy.
Effective interprofessional communication is essential in ensuring seamless coordination across disciplines. Each team member, including physicians, nurses, advanced practitioners, pharmacists, and allied health professionals, contributes their expertise to streamline the diagnostic and therapeutic process. Care coordination minimizes delays in treatment, reduces complications, and enhances patient safety.
Media
(Click Image to Enlarge)
(Click Image to Enlarge)
Glycogen, Free Glucose Release, and Glycogen Storage Diseases. The blue figure shows the α-1,4 and α-1,6 links in the glycogen molecule. The second figure shows how glucose-6-phosphate enters the endoplasmic reticulum and transforms into free glucose, which exits the organelle to go back to the cytoplasm. The table outlines the molecular bases and clinical manifestations of the different glycogen storage diseases.
Contributed by W Stone, MD
References
van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT, Bakker HD, Loonen MC, de Klerk JB, Reuser AJ, van der Ploeg AT. The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. Pediatrics. 2003 Aug:112(2):332-40 [PubMed PMID: 12897283]
Level 3 (low-level) evidenceTaverna S, Cammarata G, Colomba P, Sciarrino S, Zizzo C, Francofonte D, Zora M, Scalia S, Brando C, Curto AL, Marsana EM, Olivieri R, Vitale S, Duro G. Pompe disease: pathogenesis, molecular genetics and diagnosis. Aging. 2020 Aug 3:12(15):15856-15874. doi: 10.18632/aging.103794. Epub 2020 Aug 3 [PubMed PMID: 32745073]
Lim JA, Li L, Raben N. Pompe disease: from pathophysiology to therapy and back again. Frontiers in aging neuroscience. 2014:6():177. doi: 10.3389/fnagi.2014.00177. Epub 2014 Jul 23 [PubMed PMID: 25183957]
Güngör D, Reuser AJ. How to describe the clinical spectrum in Pompe disease? American journal of medical genetics. Part A. 2013 Feb:161A(2):399-400. doi: 10.1002/ajmg.a.35662. Epub 2013 Jan 8 [PubMed PMID: 23300052]
Filosto M, Cotelli MS, Vielmi V, Todeschini A, Rinaldi F, Rota S, Scarpelli M, Padovani A. Late-Onset Glycogen Storage Disease Type 2. Current molecular medicine. 2014:14(8):971-978. doi: 10.2174/1566524014666141010131649. Epub [PubMed PMID: 25323875]
Kishnani PS, Goldenberg PC, DeArmey SL, Heller J, Benjamin D, Young S, Bali D, Smith SA, Li JS, Mandel H, Koeberl D, Rosenberg A, Chen YT. Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Molecular genetics and metabolism. 2010 Jan:99(1):26-33. doi: 10.1016/j.ymgme.2009.08.003. Epub [PubMed PMID: 19775921]
Bali DS, Goldstein JL, Banugaria S, Dai J, Mackey J, Rehder C, Kishnani PS. Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience. American journal of medical genetics. Part C, Seminars in medical genetics. 2012 Feb 15:160C(1):40-9. doi: 10.1002/ajmg.c.31319. Epub 2012 Jan 17 [PubMed PMID: 22252923]
Wang Z, Okamoto P, Keutzer J. A new assay for fast, reliable CRIM status determination in infantile-onset Pompe disease. Molecular genetics and metabolism. 2014 Feb:111(2):92-100. doi: 10.1016/j.ymgme.2013.08.010. Epub 2013 Aug 29 [PubMed PMID: 24044919]
Kishnani PS, Corzo D, Leslie ND, Gruskin D, Van der Ploeg A, Clancy JP, Parini R, Morin G, Beck M, Bauer MS, Jokic M, Tsai CE, Tsai BW, Morgan C, O'Meara T, Richards S, Tsao EC, Mandel H. Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. Pediatric research. 2009 Sep:66(3):329-35. doi: 10.1203/PDR.0b013e3181b24e94. Epub [PubMed PMID: 19542901]
Level 1 (high-level) evidenceKuo WL, Hirschhorn R, Huie ML, Hirschhorn K. Localization and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization. Human genetics. 1996 Mar:97(3):404-6 [PubMed PMID: 8786092]
Raben N, Nichols RC, Boerkoel C, Plotz P. Genetic defects in patients with glycogenosis type II (acid maltase deficiency). Muscle & nerve. Supplement. 1995:3():S70-4 [PubMed PMID: 7603531]
Thirumal Kumar D, Umer Niazullah M, Tasneem S, Judith E, Susmita B, George Priya Doss C, Selvarajan E, Zayed H. A computational method to characterize the missense mutations in the catalytic domain of GAA protein causing Pompe disease. Journal of cellular biochemistry. 2019 Mar:120(3):3491-3505. doi: 10.1002/jcb.27624. Epub 2018 Oct 3 [PubMed PMID: 30281819]
Chien YH, Chiang SC, Zhang XK, Keutzer J, Lee NC, Huang AC, Chen CA, Wu MH, Huang PH, Tsai FJ, Chen YT, Hwu WL. Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program. Pediatrics. 2008 Jul:122(1):e39-45. doi: 10.1542/peds.2007-2222. Epub 2008 Jun 2 [PubMed PMID: 18519449]
Elenga N, Verloes A, Mrsic Y, Basurko C, Schaub R, Cuadro-Alvarez E, Kom-Tchameni R, Carles G, Lambert V, Boukhari R, Fahrasmane A, Jolivet A, Nacher M, Benoist JF. Incidence of infantile Pompe disease in the Maroon population of French Guiana. BMJ paediatrics open. 2018:2(1):e000182. doi: 10.1136/bmjpo-2017-000182. Epub 2018 Jan 9 [PubMed PMID: 29637184]
Mechtler TP, Stary S, Metz TF, De Jesús VR, Greber-Platzer S, Pollak A, Herkner KR, Streubel B, Kasper DC. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. Lancet (London, England). 2012 Jan 28:379(9813):335-41. doi: 10.1016/S0140-6736(11)61266-X. Epub 2011 Nov 29 [PubMed PMID: 22133539]
Level 2 (mid-level) evidenceBurton BK, Charrow J, Hoganson GE, Waggoner D, Tinkle B, Braddock SR, Schneider M, Grange DK, Nash C, Shryock H, Barnett R, Shao R, Basheeruddin K, Dizikes G. Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience. The Journal of pediatrics. 2017 Nov:190():130-135. doi: 10.1016/j.jpeds.2017.06.048. Epub 2017 Jul 17 [PubMed PMID: 28728811]
Ausems MG, Verbiest J, Hermans MP, Kroos MA, Beemer FA, Wokke JH, Sandkuijl LA, Reuser AJ, van der Ploeg AT. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. European journal of human genetics : EJHG. 1999 Sep:7(6):713-6 [PubMed PMID: 10482961]
Thurberg BL, Lynch Maloney C, Vaccaro C, Afonso K, Tsai AC, Bossen E, Kishnani PS, O'Callaghan M. Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease. Laboratory investigation; a journal of technical methods and pathology. 2006 Dec:86(12):1208-20 [PubMed PMID: 17075580]
Raben N, Danon M, Gilbert AL, Dwivedi S, Collins B, Thurberg BL, Mattaliano RJ, Nagaraju K, Plotz PH. Enzyme replacement therapy in the mouse model of Pompe disease. Molecular genetics and metabolism. 2003 Sep-Oct:80(1-2):159-69 [PubMed PMID: 14567965]
Meena NK, Ralston E, Raben N, Puertollano R. Enzyme Replacement Therapy Can Reverse Pathogenic Cascade in Pompe Disease. Molecular therapy. Methods & clinical development. 2020 Sep 11:18():199-214. doi: 10.1016/j.omtm.2020.05.026. Epub 2020 Jun 10 [PubMed PMID: 32671132]
Sancak Y, Bar-Peled L, Zoncu R, Markhard AL, Nada S, Sabatini DM. Ragulator-Rag complex targets mTORC1 to the lysosomal surface and is necessary for its activation by amino acids. Cell. 2010 Apr 16:141(2):290-303. doi: 10.1016/j.cell.2010.02.024. Epub 2010 Apr 8 [PubMed PMID: 20381137]
Kim J, Kundu M, Viollet B, Guan KL. AMPK and mTOR regulate autophagy through direct phosphorylation of Ulk1. Nature cell biology. 2011 Feb:13(2):132-41. doi: 10.1038/ncb2152. Epub 2011 Jan 23 [PubMed PMID: 21258367]
Winkel LP, Hagemans ML, van Doorn PA, Loonen MC, Hop WJ, Reuser AJ, van der Ploeg AT. The natural course of non-classic Pompe's disease; a review of 225 published cases. Journal of neurology. 2005 Aug:252(8):875-84 [PubMed PMID: 16133732]
Level 3 (low-level) evidenceKishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D, Infantile-Onset Pompe Disease Natural History Study Group. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. The Journal of pediatrics. 2006 May:148(5):671-676 [PubMed PMID: 16737883]
Level 2 (mid-level) evidenceReuser AJJ, van der Ploeg AT, Chien YH, Llerena J Jr, Abbott MA, Clemens PR, Kimonis VE, Leslie N, Maruti SS, Sanson BJ, Araujo R, Periquet M, Toscano A, Kishnani PS, On Behalf Of The Pompe Registry Sites. GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry. Human mutation. 2019 Nov:40(11):2146-2164. doi: 10.1002/humu.23878. Epub 2019 Aug 7 [PubMed PMID: 31342611]
Davison JE. Advances in diagnosis and management of Pompe disease. Journal of mother and child. 2020 Oct 2:24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. Epub 2020 Oct 2 [PubMed PMID: 33554498]
Level 3 (low-level) evidenceGoldstein JL, Young SP, Changela M, Dickerson GH, Zhang H, Dai J, Peterson D, Millington DS, Kishnani PS, Bali DS. Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory. Muscle & nerve. 2009 Jul:40(1):32-6. doi: 10.1002/mus.21376. Epub [PubMed PMID: 19533645]
Kishnani PS, Amartino HM, Lindberg C, Miller TM, Wilson A, Keutzer J. Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry. Molecular genetics and metabolism. 2014 Sep-Oct:113(1-2):84-91. doi: 10.1016/j.ymgme.2014.07.014. Epub 2014 Jul 16 [PubMed PMID: 25085280]
Toscano A, Montagnese F, Musumeci O. Early is better? A new algorithm for early diagnosis in late onset Pompe disease (LOPD). Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology. 2013 Oct:32(2):78-81 [PubMed PMID: 24399862]
Zhang H, Kallwass H, Young SP, Carr C, Dai J, Kishnani PS, Millington DS, Keutzer J, Chen YT, Bali D. Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease. Genetics in medicine : official journal of the American College of Medical Genetics. 2006 May:8(5):302-6 [PubMed PMID: 16702880]
Anderson G, Smith VV, Malone M, Sebire NJ. Blood film examination for vacuolated lymphocytes in the diagnosis of metabolic disorders; retrospective experience of more than 2,500 cases from a single centre. Journal of clinical pathology. 2005 Dec:58(12):1305-10 [PubMed PMID: 16311352]
Level 2 (mid-level) evidencePascarella A, Terracciano C, Farina O, Lombardi L, Esposito T, Napolitano F, Franzese G, Panella G, Tuccillo F, la Marca G, Bernardini S, Boffo S, Giordano A, Di Iorio G, Melone MAB, Sampaolo S. Vacuolated PAS-positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy. Journal of cellular physiology. 2018 Aug:233(8):5829-5837. doi: 10.1002/jcp.26365. Epub 2018 Feb 22 [PubMed PMID: 29215735]
Rairikar MV, Case LE, Bailey LA, Kazi ZB, Desai AK, Berrier KL, Coats J, Gandy R, Quinones R, Kishnani PS. Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T}G "late-onset" GAA variant. Molecular genetics and metabolism. 2017 Nov:122(3):99-107. doi: 10.1016/j.ymgme.2017.09.008. Epub 2017 Sep 19 [PubMed PMID: 28951071]
Level 3 (low-level) evidencePeruzzo P, Pavan E, Dardis A. Molecular genetics of Pompe disease: a comprehensive overview. Annals of translational medicine. 2019 Jul:7(13):278. doi: 10.21037/atm.2019.04.13. Epub [PubMed PMID: 31392190]
Level 3 (low-level) evidencePompe Disease Diagnostic Working Group, Winchester B, Bali D, Bodamer OA, Caillaud C, Christensen E, Cooper A, Cupler E, Deschauer M, Fumić K, Jackson M, Kishnani P, Lacerda L, Ledvinová J, Lugowska A, Lukacs Z, Maire I, Mandel H, Mengel E, Müller-Felber W, Piraud M, Reuser A, Rupar T, Sinigerska I, Szlago M, Verheijen F, van Diggelen OP, Wuyts B, Zakharova E, Keutzer J. Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. Molecular genetics and metabolism. 2008 Mar:93(3):275-81 [PubMed PMID: 18078773]
Level 3 (low-level) evidenceSluiter W, van den Bosch JC, Goudriaan DA, van Gelder CM, de Vries JM, Huijmans JG, Reuser AJ, van der Ploeg AT, Ruijter GJ. Rapid ultraperformance liquid chromatography-tandem mass spectrometry assay for a characteristic glycogen-derived tetrasaccharide in Pompe disease and other glycogen storage diseases. Clinical chemistry. 2012 Jul:58(7):1139-47. doi: 10.1373/clinchem.2011.178319. Epub 2012 May 23 [PubMed PMID: 22623745]
Chien YH, Lee NC, Thurberg BL, Chiang SC, Zhang XK, Keutzer J, Huang AC, Wu MH, Huang PH, Tsai FJ, Chen YT, Hwu WL. Pompe disease in infants: improving the prognosis by newborn screening and early treatment. Pediatrics. 2009 Dec:124(6):e1116-25. doi: 10.1542/peds.2008-3667. Epub [PubMed PMID: 19948615]
Kishnani PS, Corzo D, Nicolino M, Byrne B, Mandel H, Hwu WL, Leslie N, Levine J, Spencer C, McDonald M, Li J, Dumontier J, Halberthal M, Chien YH, Hopkin R, Vijayaraghavan S, Gruskin D, Bartholomew D, van der Ploeg A, Clancy JP, Parini R, Morin G, Beck M, De la Gastine GS, Jokic M, Thurberg B, Richards S, Bali D, Davison M, Worden MA, Chen YT, Wraith JE. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology. 2007 Jan 9:68(2):99-109 [PubMed PMID: 17151339]
van Gelder CM, Poelman E, Plug I, Hoogeveen-Westerveld M, van der Beek NAME, Reuser AJJ, van der Ploeg AT. Effects of a higher dose of alglucosidase alfa on ventilator-free survival and motor outcome in classic infantile Pompe disease: an open-label single-center study. Journal of inherited metabolic disease. 2016 May:39(3):383-390. doi: 10.1007/s10545-015-9912-y. Epub 2016 Jan 14 [PubMed PMID: 26768149]
Desai AK, Li C, Rosenberg AS, Kishnani PS. Immunological challenges and approaches to immunomodulation in Pompe disease: a literature review. Annals of translational medicine. 2019 Jul:7(13):285. doi: 10.21037/atm.2019.05.27. Epub [PubMed PMID: 31392197]
Chien YH, Hwu WL, Lee NC. Pompe disease: early diagnosis and early treatment make a difference. Pediatrics and neonatology. 2013 Aug:54(4):219-27. doi: 10.1016/j.pedneo.2013.03.009. Epub 2013 Apr 28 [PubMed PMID: 23632029]
Yang CF, Yang CC, Liao HC, Huang LY, Chiang CC, Ho HC, Lai CJ, Chu TH, Yang TF, Hsu TR, Soong WJ, Niu DM. Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes. The Journal of pediatrics. 2016 Feb:169():174-80.e1. doi: 10.1016/j.jpeds.2015.10.078. Epub 2015 Dec 10 [PubMed PMID: 26685070]
Gutschmidt K, Musumeci O, Díaz-Manera J, Chien YH, Knop KC, Wenninger S, Montagnese F, Pugliese A, Tavilla G, Alonso-Pérez J, Hwu PW, Toscano A, Schoser B. STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa. Journal of neurology. 2021 Jul:268(7):2482-2492. doi: 10.1007/s00415-021-10409-9. Epub 2021 Feb 5 [PubMed PMID: 33543425]
van der Ploeg AT, Clemens PR, Corzo D, Escolar DM, Florence J, Groeneveld GJ, Herson S, Kishnani PS, Laforet P, Lake SL, Lange DJ, Leshner RT, Mayhew JE, Morgan C, Nozaki K, Park DJ, Pestronk A, Rosenbloom B, Skrinar A, van Capelle CI, van der Beek NA, Wasserstein M, Zivkovic SA. A randomized study of alglucosidase alfa in late-onset Pompe's disease. The New England journal of medicine. 2010 Apr 15:362(15):1396-406. doi: 10.1056/NEJMoa0909859. Epub [PubMed PMID: 20393176]
Level 1 (high-level) evidenceStepien KM, Hendriksz CJ, Roberts M, Sharma R. Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years. Molecular genetics and metabolism. 2016 Apr:117(4):413-8. doi: 10.1016/j.ymgme.2016.01.013. Epub 2016 Feb 4 [PubMed PMID: 26873529]
Diaz-Manera J, Kishnani PS, Kushlaf H, Ladha S, Mozaffar T, Straub V, Toscano A, van der Ploeg AT, Berger KI, Clemens PR, Chien YH, Day JW, Illarioshkin S, Roberts M, Attarian S, Borges JL, Bouhour F, Choi YC, Erdem-Ozdamar S, Goker-Alpan O, Kostera-Pruszczyk A, Haack KA, Hug C, Huynh-Ba O, Johnson J, Thibault N, Zhou T, Dimachkie MM, Schoser B, COMET Investigator Group. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial. The Lancet. Neurology. 2021 Dec:20(12):1012-1026. doi: 10.1016/S1474-4422(21)00241-6. Epub [PubMed PMID: 34800399]
Level 1 (high-level) evidenceLi RJ, Ma L, Drozda K, Wang J, Punnoose AR, Jeng LJB, Maynard JW, Zhu H, Pacanowski M. Model-Informed Approach Supporting Approval of Nexviazyme (Avalglucosidase Alfa-ngpt) in Pediatric Patients with Late-Onset Pompe Disease. The AAPS journal. 2023 Jan 18:25(1):16. doi: 10.1208/s12248-023-00784-8. Epub 2023 Jan 18 [PubMed PMID: 36653728]
Kishnani P, Tarnopolsky M, Roberts M, Sivakumar K, Dasouki M, Dimachkie MM, Finanger E, Goker-Alpan O, Guter KA, Mozaffar T, Pervaiz MA, Laforet P, Levine T, Adera M, Lazauskas R, Sitaraman S, Khanna R, Benjamin E, Feng J, Flanagan JJ, Barth J, Barlow C, Lockhart DJ, Valenzano KJ, Boudes P, Johnson FK, Byrne B. Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α. Molecular therapy : the journal of the American Society of Gene Therapy. 2017 May 3:25(5):1199-1208. doi: 10.1016/j.ymthe.2017.02.017. Epub 2017 Mar 22 [PubMed PMID: 28341561]
Schoser B, Roberts M, Byrne BJ, Sitaraman S, Jiang H, Laforêt P, Toscano A, Castelli J, Díaz-Manera J, Goldman M, van der Ploeg AT, Bratkovic D, Kuchipudi S, Mozaffar T, Kishnani PS, PROPEL Study Group. Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial. The Lancet. Neurology. 2021 Dec:20(12):1027-1037. doi: 10.1016/S1474-4422(21)00331-8. Epub [PubMed PMID: 34800400]
Level 1 (high-level) evidenceTodd AG, McElroy JA, Grange RW, Fuller DD, Walter GA, Byrne BJ, Falk DJ. Correcting Neuromuscular Deficits With Gene Therapy in Pompe Disease. Annals of neurology. 2015 Aug:78(2):222-34. doi: 10.1002/ana.24433. Epub 2015 Jun 30 [PubMed PMID: 25925726]
Han SO, Ronzitti G, Arnson B, Leborgne C, Li S, Mingozzi F, Koeberl D. Low-Dose Liver-Targeted Gene Therapy for Pompe Disease Enhances Therapeutic Efficacy of ERT via Immune Tolerance Induction. Molecular therapy. Methods & clinical development. 2017 Mar 17:4():126-136. doi: 10.1016/j.omtm.2016.12.010. Epub 2017 Jan 11 [PubMed PMID: 28344998]
Clayton NP, Nelson CA, Weeden T, Taylor KM, Moreland RJ, Scheule RK, Phillips L, Leger AJ, Cheng SH, Wentworth BM. Antisense Oligonucleotide-mediated Suppression of Muscle Glycogen Synthase 1 Synthesis as an Approach for Substrate Reduction Therapy of Pompe Disease. Molecular therapy. Nucleic acids. 2014 Oct 28:3(10):e206. doi: 10.1038/mtna.2014.57. Epub 2014 Oct 28 [PubMed PMID: 25350581]
Tang B, Frasinyuk MS, Chikwana VM, Mahalingan KK, Morgan CA, Segvich DM, Bondarenko SP, Mrug GP, Wyrebek P, Watt DS, DePaoli-Roach AA, Roach PJ, Hurley TD. Discovery and Development of Small-Molecule Inhibitors of Glycogen Synthase. Journal of medicinal chemistry. 2020 Apr 9:63(7):3538-3551. doi: 10.1021/acs.jmedchem.9b01851. Epub 2020 Mar 23 [PubMed PMID: 32134266]
Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, Crowley JF, Downs S, Howell RR, Kravitz RM, Mackey J, Marsden D, Martins AM, Millington DS, Nicolino M, O'Grady G, Patterson MC, Rapoport DM, Slonim A, Spencer CT, Tifft CJ, Watson MS. Pompe disease diagnosis and management guideline. Genetics in medicine : official journal of the American College of Medical Genetics. 2006 May:8(5):267-88 [PubMed PMID: 16702877]
Level 3 (low-level) evidenceByrne BJ, Fuller DD, Smith BK, Clement N, Coleman K, Cleaver B, Vaught L, Falk DJ, McCall A, Corti M. Pompe disease gene therapy: neural manifestations require consideration of CNS directed therapy. Annals of translational medicine. 2019 Jul:7(13):290. doi: 10.21037/atm.2019.05.56. Epub [PubMed PMID: 31392202]
Ebbink BJ, Poelman E, Aarsen FK, Plug I, Régal L, Muentjes C, van der Beek NAME, Lequin MH, van der Ploeg AT, van den Hout JMP. Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain. Developmental medicine and child neurology. 2018 Jun:60(6):579-586. doi: 10.1111/dmcn.13740. Epub 2018 Mar 24 [PubMed PMID: 29573408]
van Capelle CI, Goedegebure A, Homans NC, Hoeve HL, Reuser AJ, van der Ploeg AT. Hearing loss in Pompe disease revisited: results from a study of 24 children. Journal of inherited metabolic disease. 2010 Oct:33(5):597-602. doi: 10.1007/s10545-010-9144-0. Epub 2010 Jul 2 [PubMed PMID: 20596893]
Harlaar L, Hogrel JY, Perniconi B, Kruijshaar ME, Rizopoulos D, Taouagh N, Canal A, Brusse E, van Doorn PA, van der Ploeg AT, Laforêt P, van der Beek NAME. Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease. Neurology. 2019 Nov 5:93(19):e1756-e1767. doi: 10.1212/WNL.0000000000008441. Epub 2019 Oct 16 [PubMed PMID: 31619483]
Lim JA, Yi H, Gao F, Raben N, Kishnani PS, Sun B. Intravenous Injection of an AAV-PHP.B Vector Encoding Human Acid α-Glucosidase Rescues Both Muscle and CNS Defects in Murine Pompe Disease. Molecular therapy. Methods & clinical development. 2019 Mar 15:12():233-245. doi: 10.1016/j.omtm.2019.01.006. Epub 2019 Jan 25 [PubMed PMID: 30809555]
Van den Hout JM, Kamphoven JH, Winkel LP, Arts WF, De Klerk JB, Loonen MC, Vulto AG, Cromme-Dijkhuis A, Weisglas-Kuperus N, Hop W, Van Hirtum H, Van Diggelen OP, Boer M, Kroos MA, Van Doorn PA, Van der Voort E, Sibbles B, Van Corven EJ, Brakenhoff JP, Van Hove J, Smeitink JA, de Jong G, Reuser AJ, Van der Ploeg AT. Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics. 2004 May:113(5):e448-57 [PubMed PMID: 15121988]
Banugaria SG, Prater SN, Ng YK, Kobori JA, Finkel RS, Ladda RL, Chen YT, Rosenberg AS, Kishnani PS. The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease. Genetics in medicine : official journal of the American College of Medical Genetics. 2011 Aug:13(8):729-36. doi: 10.1097/GIM.0b013e3182174703. Epub [PubMed PMID: 21637107]
Level 2 (mid-level) evidenceJones HN, Muller CW, Lin M, Banugaria SG, Case LE, Li JS, O'Grady G, Heller JH, Kishnani PS. Oropharyngeal dysphagia in infants and children with infantile Pompe disease. Dysphagia. 2010 Dec:25(4):277-83. doi: 10.1007/s00455-009-9252-x. Epub 2009 Sep 10 [PubMed PMID: 19763689]
Level 3 (low-level) evidenceBerger KI, Chan Y, Rom WN, Oppenheimer BW, Goldring RM. Progression from respiratory dysfunction to failure in late-onset Pompe disease. Neuromuscular disorders : NMD. 2016 Aug:26(8):481-9. doi: 10.1016/j.nmd.2016.05.018. Epub 2016 May 30 [PubMed PMID: 27297666]
Kansagra S, Austin S, DeArmey S, Kishnani PS, Kravitz RM. Polysomnographic findings in infantile Pompe disease. American journal of medical genetics. Part A. 2013 Dec:161A(12):3196-200. doi: 10.1002/ajmg.a.36227. Epub 2013 Oct 2 [PubMed PMID: 24123966]
Yang CF, Niu DM, Tai SK, Wang TH, Su HT, Huang LY, Soong WJ. Airway abnormalities in very early treated infantile-onset Pompe disease: A large-scale survey by flexible bronchoscopy. American journal of medical genetics. Part A. 2020 Apr:182(4):721-729. doi: 10.1002/ajmg.a.61481. Epub 2020 Jan 18 [PubMed PMID: 31953985]
Level 3 (low-level) evidenceBoentert M, Dräger B, Glatz C, Young P. Sleep-Disordered Breathing and Effects of Noninvasive Ventilation in Patients with Late-Onset Pompe Disease. Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine. 2016 Dec 15:12(12):1623-1632. doi: 10.5664/jcsm.6346. Epub 2016 Dec 15 [PubMed PMID: 27568896]
Wokke JH, Escolar DM, Pestronk A, Jaffe KM, Carter GT, van den Berg LH, Florence JM, Mayhew J, Skrinar A, Corzo D, Laforet P. Clinical features of late-onset Pompe disease: a prospective cohort study. Muscle & nerve. 2008 Oct:38(4):1236-45. doi: 10.1002/mus.21025. Epub [PubMed PMID: 18816591]
Perrin C, D'Ambrosio C, White A, Hill NS. Sleep in restrictive and neuromuscular respiratory disorders. Seminars in respiratory and critical care medicine. 2005 Feb:26(1):117-30 [PubMed PMID: 16052424]
Slonim AE, Bulone L, Goldberg T, Minikes J, Slonim E, Galanko J, Martiniuk F. Modification of the natural history of adult-onset acid maltase deficiency by nutrition and exercise therapy. Muscle & nerve. 2007 Jan:35(1):70-7 [PubMed PMID: 17022069]
Case LE, Kishnani PS. Physical therapy management of Pompe disease. Genetics in medicine : official journal of the American College of Medical Genetics. 2006 May:8(5):318-27 [PubMed PMID: 16702883]
Level 3 (low-level) evidenceMcDonald CM. Limb contractures in progressive neuromuscular disease and the role of stretching, orthotics, and surgery. Physical medicine and rehabilitation clinics of North America. 1998 Feb:9(1):187-211 [PubMed PMID: 9894140]
van den Berg LE, Zandbergen AA, van Capelle CI, de Vries JM, Hop WC, van den Hout JM, Reuser AJ, Zillikens MC, van der Ploeg AT. Low bone mass in Pompe disease: muscular strength as a predictor of bone mineral density. Bone. 2010 Sep:47(3):643-9. doi: 10.1016/j.bone.2010.06.021. Epub 2010 Jun 25 [PubMed PMID: 20601298]
Li Y, Scott CR, Chamoles NA, Ghavami A, Pinto BM, Turecek F, Gelb MH. Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening. Clinical chemistry. 2004 Oct:50(10):1785-96 [PubMed PMID: 15292070]
Sista RS, Wang T, Wu N, Graham C, Eckhardt A, Winger T, Srinivasan V, Bali D, Millington DS, Pamula VK. Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform. Clinica chimica acta; international journal of clinical chemistry. 2013 Sep 23:424():12-8. doi: 10.1016/j.cca.2013.05.001. Epub 2013 May 7 [PubMed PMID: 23660237]
Graham C, Sista RS, Kleinert J, Wu N, Eckhardt A, Bali D, Millington DS, Pamula VK. Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns. Clinical biochemistry. 2013 Dec:46(18):1889-91. doi: 10.1016/j.clinbiochem.2013.09.003. Epub 2013 Sep 11 [PubMed PMID: 24036022]
Prosser LA, Lam KK, Grosse SD, Casale M, Kemper AR. Using Decision Analysis to Support Newborn Screening Policy Decisions: A Case Study for Pompe Disease. MDM policy & practice. 2018 Jan-Jun:3(1):. doi: 10.1177/2381468318763814. Epub 2018 Apr 18 [PubMed PMID: 30123835]
Level 3 (low-level) evidenceBurton BK, Kronn DF, Hwu WL, Kishnani PS, Pompe Disease Newborn Screening Working Group. The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease. Pediatrics. 2017 Jul:140(Suppl 1):S14-S23. doi: 10.1542/peds.2016-0280D. Epub [PubMed PMID: 29162674]
Sawada T, Kido J, Nakamura K. Newborn Screening for Pompe Disease. International journal of neonatal screening. 2020 Jun:6(2):31. doi: 10.3390/ijns6020031. Epub 2020 Apr 5 [PubMed PMID: 33073027]