Research & Literature

Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.

Montagnese F, Barca E, Musumeci O, et al.

Journal of neurology 2015; (262(4)):968-78 doi:10.1007/s00415-015-7664-0.

Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease.

Pena LD, Proia AD, Kishnani PS

JIMD reports 2015; (23()):45-54 doi:10.1007/8904_2015_426.

LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.

Musumeci O, la Marca G, Spada M, et al.

Journal of neurology, neurosurgery, and psychiatry 2016; (87(1)):5-11 doi:10.1136/jnnp-2014-310164.

Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort.

Gutiérrez-Rivas E, Bautista J, Vílchez JJ, et al.

Neuromuscular disorders : NMD 2015; (25(7)):548-53.

c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype.

Morales A, Poling MI, Páez MT, et al.

BMJ case reports 2015; (2015()).

Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group.

, Al Jasmi F, Al Jumah M, et al.

BMC neurology 2015; (15()):205 doi:10.1186/s12883-015-0412-3.

Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness.

Lukacs Z, Nieves Cobos P, Wenninger S, et al.

Neurology 2016; (87(3)):295-8 doi:10.1212/WNL.0000000000002758.

Progression from respiratory dysfunction to failure in late-onset Pompe disease.

Berger KI, Chan Y, Rom WN, et al.

Neuromuscular disorders : NMD 2016; (26(8)):481-9.

Sleep-Disordered Breathing and Effects of Noninvasive Ventilation in Patients with Late-Onset Pompe Disease.

Boentert M, Dräger B, Glatz C, Young P

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine 2016; (12(12)):1623-1632 doi:10.5664/jcsm.6346.

[Clinical guidelines for infantile-onset Pompe disease].

Pascual-Pascual SI, Nascimento A, Fernandez-Llamazares CM, et al.

Revista de neurologia 2016; (63(6)):269-79.

Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease.

Boentert M, Prigent H, Várdi K, et al.

International journal of molecular sciences 2016; (17(10)).

Mass Spectrometry but Not Fluorimetry Distinguishes Affected and Pseudodeficiency Patients in Newborn Screening for Pompe Disease.

Liao HC, Chan MJ, Yang CF, et al.

Clinical chemistry 2017; (63(7)):1271-1277 doi:10.1373/clinchem.2016.269027.

Critical Airway Stenosis in an Adolescent Male With Pompe Disease and Thoracic Lordosis: A Case Report.

Brenn BR, Theroux MT, Shah SA, et al.

A & A case reports 2017; (9(7)):199-203 doi:10.1213/XAA.0000000000000564.

Respiratory muscle training with enzyme replacement therapy improves muscle strength in late - onset Pompe disease.

Jevnikar M, Kodric M, Cantarutti F, et al.

Molecular genetics and metabolism reports 2015; (5()):67-71 doi:10.1016/j.ymgmr.2015.09.007.

Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease.

Kazi ZB, Desai AK, Berrier KL, et al.

JCI insight 2017; (2(16)).

Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant.

Rairikar MV, Case LE, Bailey LA, et al.

Molecular genetics and metabolism 2017; (122(3)):99-107 doi:10.1016/j.ymgme.2017.09.008.

The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease.

Burton BK, Kronn DF, Hwu WL, et al.

Pediatrics 2017; (140(Suppl 1)):S14-S23 doi:10.1542/peds.2016-0280D.

Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum.

Kronn DF, Day-Salvatore D, Hwu WL, et al.

Pediatrics 2017; (140(Suppl 1)):S24-S45 doi:10.1542/peds.2016-0280E.

Infantile-onset Pompe disease with neonatal debut: A case report and literature review.

Martínez M, Romero MG, Guereta LG, et al.

Medicine 2017; (96(51)):e9186 doi:10.1097/MD.0000000000009186.

High Sustained Antibody Titers in Patients with Classic Infantile Pompe Disease Following Immunomodulation at Start of Enzyme Replacement Therapy.

Poelman E, Hoogeveen-Westerveld M, Kroos-de Haan MA, et al.

The Journal of pediatrics 2018; (195()):236-243.e3 doi:10.1016/j.jpeds.2017.11.046.

Newborn screening for Pompe disease: impact on families.

Pruniski B, Lisi E, Ali N

Journal of inherited metabolic disease 2018; (41(6)):1189-1203 doi:10.1007/s10545-018-0159-2.

Infantile-onset Pompe disease: A case series highlighting early clinical features, spectrum of disease severity and treatment response.

Owens P, Wong M, Bhattacharya K, Ellaway C

Journal of paediatrics and child health 2018; (54(11)):1255-1261 doi:10.1111/jpc.14070.

Using Decision Analysis to Support Newborn Screening Policy Decisions: A Case Study for Pompe Disease.

Prosser LA, Lam KK, Grosse SD, et al.

MDM policy & practice 2018; (3(1)) doi:10.1177/2381468318763814.

Low Prevalence Estimates of Late-Onset Glycogen Storage Disease Type II in French-Speaking Belgium are not Due to Missed Diagnoses.

Remiche G, Lukacs Z, Kasper DC, et al.

Journal of neuromuscular diseases 2018; (5(4)):471-480 doi:10.3233/JND-180336.

An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease.

Kazi ZB, Desai AK, Troxler RB, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(4)):887-895 doi:10.1038/s41436-018-0270-7.

Cough Effectiveness and Pulmonary Hygiene Practices in Patients with Pompe Disease.

Pitts T, Bordelon R, Huff A, et al.

Lung 2019; (197(1)):1-8 doi:10.1007/s00408-018-0171-1.

Improvement in Cardiac Function With Enzyme Replacement Therapy in a Patient With Infantile-Onset Pompe Disease.

Niyazov D, Lara DA

Ochsner journal 2018; (18(4)):413-416 doi:10.31486/toj.18.0049.

Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13 T > G variant.

Herbert M, Case LE, Rairikar M, et al.

Molecular genetics and metabolism 2019; (126(2)):106-116 doi:10.1016/j.ymgme.2018.08.009.

The impact of Pompe disease on smooth muscle: a review.

McCall AL, Salemi J, Bhanap P, et al.

Journal of smooth muscle research = Nihon Heikatsukin Gakkai kikanshi 2018; (54(0)):100-118 doi:10.1540/jsmr.54.100.

The role of rehabilitation in the management of late-onset Pompe disease: a narrative review of the level of evidence.

Iolascon G, Vitacca M, Carraro E, et al.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2018; (37(4)):241-251.

Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.

Momosaki K, Kido J, Yoshida S, et al.

Journal of human genetics 2019; (64(8)):741-755 doi:10.1038/s10038-019-0603-7.

Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy.

Desai AK, Kazi ZB, Bali DS, Kishnani PS

Molecular genetics and metabolism reports 2019; (20()):100475 doi:10.1016/j.ymgmr.2019.100475.

Rehabilitation management of Pompe disease, from childhood trough adulthood: A systematic review of the literature.

Corrado B, Ciardi G, Iammarrone CS

Neurology international 2019; (11(2)):7983 doi:10.4081/ni.2019.7983.

Long-term outcome and unmet needs in infantile-onset Pompe disease.

Hahn A, Schänzer A

Annals of translational medicine 2019; (7(13)):283 doi:10.21037/atm.2019.04.70.

Multisystem late onset Pompe disease (LOPD): an update on clinical aspects.

Toscano A, Rodolico C, Musumeci O

Annals of translational medicine 2019; (7(13)):284 doi:10.21037/atm.2019.07.24.

Diagnostic tools in late onset Pompe disease (LOPD).

Musumeci O, Toscano A

Annals of translational medicine 2019; (7(13)):286 doi:10.21037/atm.2019.06.60.

Pompe disease gene therapy: neural manifestations require consideration of CNS directed therapy.

Byrne BJ, Fuller DD, Smith BK, et al.

Annals of translational medicine 2019; (7(13)):290 doi:10.21037/atm.2019.05.56.

Pompe disease: what are we missing?

Schoser B

Annals of translational medicine 2019; (7(13)):292 doi:10.21037/atm.2019.05.29.

Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.

Khan AA, Case LE, Herbert M, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2020; (22(5)):898-907 doi:10.1038/s41436-019-0738-0.

Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis.

In 't Groen SLM, de Faria DOS, Iuliano A, et al.

Molecular therapy. Methods & clinical development 2020; (17()):337-348 doi:10.1016/j.omtm.2019.12.016.

Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures.

Vanherpe P, Fieuws S, D'Hondt A, et al.

Orphanet journal of rare diseases 2020; (15(1)):83 doi:10.1186/s13023-020-01353-4.

Benefits of Prophylactic Short-Course Immune Tolerance Induction in Patients With Infantile Pompe Disease: Demonstration of Long-Term Safety and Efficacy in an Expanded Cohort.

Desai AK, Baloh CH, Sleasman JW, et al.

Frontiers in immunology 2020; (11()):1727 doi:10.3389/fimmu.2020.01727.

A Race Against Time-Changing the Natural History of CRIM Negative Infantile Pompe Disease.

Gupta P, Shayota BJ, Desai AK, et al.

Frontiers in immunology 2020; (11()):1929 doi:10.3389/fimmu.2020.01929.

The Timely Needs for Infantile Onset Pompe Disease Newborn Screening-Practice in Taiwan.

Chiang SC, Chien YH, Chang KL, et al.

International journal of neonatal screening 2020; (6(2)):30 doi:10.3390/ijns6020030.

Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience.

Niño MY, Wijgerde M, de Faria DOS, et al.

European journal of human genetics : EJHG 2021; (29(3)):434-446 doi:10.1038/s41431-020-00752-2.

Respiratory failure and sleep-disordered breathing in late-onset Pompe disease: a narrative review.

Shah NM, Sharma L, Ganeshamoorthy S, Kaltsakas G

Journal of thoracic disease 2020; (12(Suppl 2)):S235-S247 doi:10.21037/jtd-cus-2020-007.

Orofacial features and pediatric dentistry in the long-term management of Infantile Pompe Disease children.

Galeotti A, De Rosa S, Uomo R, et al.

Orphanet journal of rare diseases 2020; (15(1)):329 doi:10.1186/s13023-020-01615-1.

Advances in diagnosis and management of Pompe disease.

Davison JE

Journal of mother and child 2020; (24(2)):3-8 doi:10.34763/jmotherandchild.20202402si.2001.000002.

Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families.

Napolitano F, Bruno G, Terracciano C, et al.

International journal of molecular sciences 2021; (22(7)) doi:10.3390/ijms22073625.

Exercise, nutrition and enzyme replacement therapy are efficacious in adult Pompe patients: report from EPOC Consortium.

Angelini C

European journal of translational myology 2021; (31(2)) doi:10.4081/ejtm.2021.9798.

Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory.

Saville JT, Fuller M

Metabolites 2021; (11(7)) doi:10.3390/metabo11070446.

New Insights into Gastrointestinal Involvement in Late-Onset Pompe Disease: Lessons Learned from Bench and Bedside.

Korlimarla A, Lim JA, McIntosh P, et al.

Journal of clinical medicine 2021; (10(15)) doi:10.3390/jcm10153395.

Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.

Byrne BJ, Colan SD, Kishnani PS, et al.

Cardiology in the young 2022; (32(3)):364-373 doi:10.1017/S1047951121002079.

Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus.

Fatehi F, Ashrafi MR, Babaee M, et al.

Frontiers in neurology 2021; (12()):739931 doi:10.3389/fneur.2021.739931.

Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial.

Diaz-Manera J, Kishnani PS, Kushlaf H, et al.

The Lancet. Neurology 2021; (20(12)):1012-1026 doi:10.1016/S1474-4422(21)00241-6.

Newborn screening for Pompe disease: Parental experiences and follow-up care for a late-onset diagnosis.

Prakash S, Penn JD, Jackson KE, Dean LW

Journal of genetic counseling 2022; (31(6)):1404-1420 doi:10.1002/jgc4.1615.

The earliest enzyme replacement for infantile-onset Pompe disease in Japan.

Tocan V, Mushimoto Y, Kojima-Ishii K, et al.

Pediatrics international : official journal of the Japan Pediatric Society 2022; (64(1)):e15286 doi:10.1111/ped.15286.

Motor Function Characteristics of Adults With Late-Onset Pompe Disease: A Systematic Scoping Review.

Maulet T, Bonnyaud C, Weill C, et al.

Neurology 2023; (100(1)):e72-e83 doi:10.1212/WNL.0000000000201333.

Anaesthetic implications for Pompe disease. A case description.

Ruano Santiago M, Soto Garrucho E, González Marín Y, et al.

Revista espanola de anestesiologia y reanimacion 2023; (70(2)):112-115 doi:10.1016/j.redare.2021.09.012.

Expert opinion on the diagnostic odyssey and management of late-onset Pompe disease: a neurologist's perspective.

Erdem Ozdamar S, Koc AF, Durmus Tekce H, et al.

Frontiers in neurology 2023; (14()):1095134 doi:10.3389/fneur.2023.1095134.

Hypersensitivity infusion-associated reactions induced by enzyme replacement therapy in a cohort of patients with late-onset Pompe disease: An experience from the French Pompe Registry.

Lessard LER, Tard C, Salort-Campana E, et al.

Molecular genetics and metabolism 2023; (139(3)):107611 doi:10.1016/j.ymgme.2023.107611.

Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening.

Pillai NR, Fabie NAV, Kaye TV, et al.

Molecular genetics and metabolism 2023; (140(1-2)):107633 doi:10.1016/j.ymgme.2023.107633.

Effects of enzyme replacement therapy on bone density in late onset Pompe disease.

Avanti M, Martin A, Columbres RC, et al.

Molecular genetics and metabolism 2023; (140(3)):107644 doi:10.1016/j.ymgme.2023.107644.

Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants.

Chan MY, Jalil JA, Yakob Y, et al.

Orphanet journal of rare diseases 2023; (18(1)):231 doi:10.1186/s13023-023-02848-6.

Monitoring and Management of Respiratory Function in Pompe Disease: Current Perspectives.

El Haddad L, Khan M, Soufny R, et al.

Therapeutics and clinical risk management 2023; (19()):713-729 doi:10.2147/TCRM.S362871.

Infantile-onset pompe disease: a case report emphasizing the role of genetic counseling and prenatal testing.

Alizadeh Y, Saidi H, Saeedi V, Kamalzadeh L

BMC pediatrics 2024; (24(1)):194 doi:10.1186/s12887-024-04690-6.

Minimal clinically important differences in six-minute walking distance in late-onset Pompe disease.

Claeys KG, Kushlaf H, Raza S, et al.

Orphanet journal of rare diseases 2024; (19(1)):154 doi:10.1186/s13023-024-03156-3.

Optimizing treatment outcomes: immune tolerance induction in Pompe disease patients undergoing enzyme replacement therapy.

Chen HA, Hsu RH, Fang CY, et al.

Frontiers in immunology 2024; (15()):1336599 doi:10.3389/fimmu.2024.1336599.

Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024.

Schoser B, van der Beek NAME, Broomfield A, et al.

European journal of neurology 2024; (31(9)):e16383 doi:10.1111/ene.16383.

Clinical insight meets scientific innovation to develop a next generation ERT for Pompe disease.

Kishnani PS, Chien YH, Berger KI, et al.

Molecular genetics and metabolism 2024; (143(1-2)):108559 doi:10.1016/j.ymgme.2024.108559.

Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy.

Fiumara A, Sapuppo A, Gasperini S, et al.

Molecular genetics and metabolism reports 2024; (40()):101126 doi:10.1016/j.ymgmr.2024.101126.

Optimizing clinical outcomes: The journey of twins with CRIM-negative infantile-onset Pompe disease on high-dose enzyme replacement therapy and immunomodulation.

Fares AH, Desai AK, Case LE, et al.

Molecular genetics and metabolism reports 2024; (41()):101141 doi:10.1016/j.ymgmr.2024.101141.

The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).

Parenti G, Fecarotta S, Alagia M, et al.

Orphanet journal of rare diseases 2024; (19(1)):408 doi:10.1186/s13023-024-03373-w.

Predicting the phenotype of Pompe Disease from features of GAA variants.

Rajamani G, Pillai NR, Stafki SA, et al.

European journal of human genetics : EJHG 2025; (33(5)):688-691 doi:10.1038/s41431-024-01771-z.

Clinical manifestations in Egyptian Pompe disease patients: Molecular variability and enzyme replacement therapy (ERT) outcomes.

Hussein MA, ElTaher H, Mahmoud R, et al.

Italian journal of pediatrics 2025; (51(1)):13 doi:10.1186/s13052-025-01837-8.

Defining clinically meaningful thresholds for forced vital capacity in patients with neuromuscular disorders: Lessons learned from the COMET study in Pompe disease.

Berger KI, Ivanescu C, Msihid J, et al.

Journal of neuromuscular diseases 2025; (12(4)):523-534 doi:10.1177/22143602251332829.

Efficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 145 weeks of treatment during the COMET trial.

Kishnani PS, Díaz-Manera J, Illarioshkin S, et al.

Journal of neurology 2025; (272(9)):581 doi:10.1007/s00415-025-13266-y.

Navigating the Emotional and Practical Challenges of Newborn Screening for Late-Onset Pompe Disease: Insights From Parental Perspectives.

Boueri M, Paltzer A, Huggins E, et al.

Pediatric neurology 2025; (172()):94-100 doi:10.1016/j.pediatrneurol.2025.08.003.

Pompe Disease: A Review of Diagnosis, Molecular Genetics, and Treatment Management.

Adadi N, El Brouzi MY

Current cardiology reviews 2026; (22(3)):e1573403X377990 doi:10.2174/011573403X377990250818051032.

Anaesthetic Management of Advanced Late-Onset Pompe Disease: Challenges in a Major Abdominal Surgery.

Silva M, Santos MF, Cardoso G

Cureus 2025; (17(9)):e93349 doi:10.7759/cureus.93349.

When the Diaphragm Fails: Visual Hallucinations Due to Isolated Respiratory Muscle Weakness as a First Manifestation of Late-Onset Pompe Disease.

Van Lierde C, Brancaleone M, Cornelis T, et al.

European journal of case reports in internal medicine 2025; (12(11)):005700 doi:10.12890/2025_005700.

Evaluation of Experienced Clinical Events in Pompe Disease Based on Real-life Data.

Erdem Karapınar F, Yazıcı H, Yoldaş Çelik M, et al.

Neuropediatrics 2026; (57(2)):121-130 doi:10.1055/a-2777-2932.

Recommendations for the diagnosis, treatment, and follow-up of late-onset Pompe disease.

Domínguez-González C, Barba Romero MÁ, Caballero Eraso C, et al.

Neurologia 2026; (41(2)):501933 doi:10.1016/j.nrleng.2025.501933.

Insights into immunogenicity and therapeutic strategies to mitigate the immune response in infantile-onset Pompe disease: a comprehensive systematic literature review.

Kishnani PS, Van Den Hout JMP, Hahn A, et al.

Frontiers in immunology 2025; (16()):1690312 doi:10.3389/fimmu.2025.1690312.

Urinary glucose tetrasaccharide tracks disease activity in late-onset Pompe disease.

Domínguez-González C, Iannucci D, Clark J, et al.

Neuromuscular disorders : NMD 2026; (60()):106359 doi:10.1016/j.nmd.2026.106359.

Lessons from late-onset Pompe disease identified by Newborn screening: A systematic review.

Boueri M, Doxey J, Boggs T, et al.

Molecular genetics and metabolism 2026; (147(4)):109762 doi:10.1016/j.ymgme.2026.109762.

When 'Liver Enzymes' Are Not Hepatic: Late-Onset Pompe Disease.

Madigan S, England G, Rankin W

The Medical journal of Australia 2026; (224(6)):e70228 doi:10.5694/mja2.70228.

A Comprehensive Update on Pompe Disease: From Existing Therapies to Emerging Curative Strategies.

Estevez Barcia R, Colón C, Hermida-Ameijeiras Á, et al.

International journal of molecular sciences 2026; (27(13)) doi:10.3390/ijms27135726.

Defining the therapeutic corridor of stability in enzyme replacement therapy for Pompe disease: a position statement.

Schoser B

Orphanet journal of rare diseases 2026; (21(1)).

Pompe Disease: From a Cardiovascular Lens.

Ali A, Thirumavalavan D, Catanzaro JN, et al.

Cardiology in review 2026; doi:10.1097/CRD.0000000000001432.