2,163 results match your criteria Glycogen Storage Disease Type II Pompe Disease


Isogenic GAA-KO Murine Muscle Cell Lines Mimicking Severe Pompe Mutations as Preclinical Models for the Screening of Potential Gene Therapy Strategies.

Int J Mol Sci 2022 Jun 4;23(11). Epub 2022 Jun 4.

GENYO, Centre for Genomics and Oncological Research: Pfizer, University of Granada, Andalusian Regional Government PTS Granada-Avenida de la Ilustración 114, 18016 Granada, Spain.

Pompe disease (PD) is a rare disorder caused by mutations in the acid alpha-glucosidase (GAA) gene. Most gene therapies (GT) partially rely on the cross-correction of unmodified cells through the uptake of the GAA enzyme secreted by corrected cells. In the present study, we generated isogenic murine GAA-KO cell lines resembling severe mutations from Pompe patients. Read More

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Vibration assisted rehabilitation in patients with Pompe disease: A case series.

J Musculoskelet Neuronal Interact 2022 06;22(2):284-291

University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Pediatrics, Cologne, Germany.

The results of three cases with infantile-onset Pompe disease participating in a rehabilitation program with home-based vibration training will be presented. In this retrospective observational case study, the cases participated in the neuromuscular training program "Auf die Beine", which combines two blocks of intensive, goal directed training with 6 months of home-based whole body vibration (WBV). Assessments by the means of a dual-energy X-ray absorptiometry and grip strength were applied at multiple points throughout the program. Read More

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Atypical infantile-onset Pompe disease with good prognosis from mainland China: A case report.

World J Clin Cases 2022 Apr;10(10):3278-3283

Department of Neonatal, Tianjin Children's Hospital (Tianjin University Children's Hospital), Tianjin 300134, China.

Background: Pompe disease has a broad disease spectrum, including infantile-onset Pompe disease (IOPD) and late-onset Pompe disease (LOPD) forms. It is a type of glycogen storage disorder belonging to autosomal recessive genetic disease, for an estimated incidence of 1/40000 among the neonatal population. In severe cases, the natural course is characterized by death due to cardiopulmonary failure in the first year after birth. Read More

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Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.

Genet Med 2022 May 2. Epub 2022 May 2.

Division of Metabolism and Nutrition, Department of Pediatrics, Ege University Children's Hospital, Izmir, Turkey.

Purpose: This paper aims to report collective information on safety and efficacy of empagliflozin drug repurposing in individuals with glycogen storage disease type Ib (GSD Ib).

Methods: This is an international retrospective questionnaire study on the safety and efficacy of empagliflozin use for management of neutropenia/neutrophil dysfunction in patients with GSD Ib, conducted among the respective health care providers from 24 countries across the globe.

Results: Clinical data from 112 individuals with GSD Ib were evaluated, representing a total of 94 treatment years. Read More

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Prevalence of lower urinary tract symptoms in children with early-treated infantile-onset Pompe disease: A single-centre cross-sectional study.

Neurourol Urodyn 2022 06 28;41(5):1177-1184. Epub 2022 Apr 28.

Department of Urology, Taipei Veterans General Hospital, Taipei, Taiwan.

Aim: To evaluate lower urinary tract symptoms (LUTS) in children with infantile-onset Pompe disease (IOPD) who received early treatment.

Methods: Pompe disease (PD), or glycogen storage disease II is a rare autosomal recessive lysosomal storage disease that affects multiple organ systems. To our knowledge, only one study has focused on the relationship between LUTS and incontinence in children with PD. Read More

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Small fiber involvement is independent from clinical pain in late-onset Pompe disease.

Orphanet J Rare Dis 2022 04 27;17(1):177. Epub 2022 Apr 27.

Institute of Neuropathology, Justus Liebig University Giessen, Arndstr.16, 35392, Giessen, Germany.

Background: Pain occurs in the majority of patients with late onset Pompe disease (LOPD) and is associated with a reduced quality of life. The aim of this study was to analyse the pain characteristics and its relation to a small nerve fiber involvement in LOPD patients.

Methods: In 35 patients with LOPD under enzyme replacement therapy without clinical signs of polyneuropathy (19 females; 51 ± 15 years), pain characteristics as well as depressive and anxiety symptoms were assessed using the PainDetect questionnaire (PDQ) and the hospital anxiety and depression scale (HADS), respectively. Read More

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Molecular mechanisms of aberrant neutrophil differentiation in glycogen storage disease type Ib.

Cell Mol Life Sci 2022 Apr 18;79(5):246. Epub 2022 Apr 18.

Department of Biotechnology and Bioinformatics, College of Science and Technology, Korea University, Sejong, 339-700, Republic of Korea.

Glycogen storage disease type Ib (GSD-Ib), characterized by impaired glucose homeostasis, neutropenia, and neutrophil dysfunction, is caused by a deficiency in glucose-6-phosphate transporter (G6PT). Neutropenia in GSD-Ib has been known to result from enhanced apoptosis of neutrophils. However, it has also been raised that neutrophil maturation arrest in the bone marrow would contribute to neutropenia. Read More

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Late-Onset Pompe Disease Presenting with Isolated Tongue Involvement.

Case Rep Neurol 2022 Jan-Apr;14(1):98-103. Epub 2022 Mar 10.

Department of Neurology, Ibn Sina Hospital, Kuwait, Kuwait.

Late-onset Pompe disease (LOPD) is a rare autosomal recessive metabolic disorder that is caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA), which is responsible for glycogen breakdown. It has a wide clinical spectrum but usually presents with limb girdle and respiratory muscles weakness. Tongue involvement has been rarely reported as the sole initial symptom of LOPD. Read More

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To detect potential pathways and target genes in infantile Pompe patients using computational analysis.

Bioimpacts 2022 22;12(2):89-105. Epub 2022 Jan 22.

Department of Pediatrics, School of Medicine, Bahcesehir University, İstanbul, Turkey.

Pompe disease (PD) is a disease caused by pathogenic variations in the GAA gene known as glycogen storage disease type II, characterized by heart hypertrophy, respiratory failure, and muscle hypotonia, leading to premature death if not treated early. The only treatment option, enzyme replacement therapy (ERT), significantly improves the prognosis for some patients while failing to help others. In this study, the determination of key genes involved in the response to ERT and potential molecular mechanisms were investigated. Read More

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January 2022

Case Report: Identification of Compound Heterozygous Mutations in a Patient With Late-Onset Glycogen Storage Disease Type II (Pompe Disease).

Front Neurol 2022 21;13:839263. Epub 2022 Mar 21.

Guangdong Key Laboratory of Age-Related Cardiac and Cerebral Diseases, Department of Neurology, Institute of Neurology, Affiliated Hospital of Guangdong Medical University, Zhanjiang, China.

Pompe disease is an autosomal recessive hereditary lysosomal disorder and correlated with acid α-glucosidase enzyme (GAA) deficiencies, which lead to accumulation of glycogen in all tissues, most notably in skeletal muscles. Adult late-onset Pompe disease (LOPD) is a slowly progressive disease of proximal myopathy with later involvement of the respiratory muscles, resulting in respiratory failure. In this study, we reported a 22-year-old Chinese woman with inability to withstand heavy physical activity since childhood, who presented with respiratory and ambulation weakness in 2 months. Read More

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Safety and effectiveness of resistance training in patients with late onset Pompe disease - a pilot study.

Neuromuscul Disord 2022 04 17;32(4):284-294. Epub 2022 Feb 17.

Department of Pediatrics, Neurology and Pathology, Division of Genetics and Genomic Medicine, University of California, Irvine School of Medicine, 101 The City Drive South, ZC4482, Orange, CA, USA; Department of Neurology, University of California, Irvine School of Medicine, Orange, CA, USA; Department of Pathology & Laboratory Medicine, University of California, Irvine School of Medicine, Orange, CA, USA. Electronic address:

Pompe disease is a progressive myopathy resulting from deficiency in lysosomal enzyme acid α-glucosidase (GAA), which leads to glycogen accumulation in lysosomes primarily in skeletal and cardiac muscle. Enzyme replacement therapy (ERT) with recombinant human (rh) GAA works well in alleviating the cardiomyopathy; however, many patients continue to have progressive muscle weakness. The purpose of this study was to evaluate the effectiveness of a respiratory training combined with 24-week supervised resistance training program on muscle strength (measured by Biodex)), and respiratory function including maximum inspiratory pressure (MIP), maximum expiratory pressure (MEP) in subjects with late onset Pompe disease receiving ERT. Read More

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Factors impacting performance on the 6-minute walk test by people with late-onset Pompe disease.

Muscle Nerve 2022 06 13;65(6):693-697. Epub 2022 Apr 13.

Inserm, CHU Lille, U1172-LilNCog-Lille Neuroscience & Cognition, University of Lille, Lille, France.

Introduction/aims: Pompe disease is a progressive myopathy that combines motor, respiratory, and cardiac impairments. The 6-min walk test is the gold standard for assessing disease severity at the motor level. The objective of this study was to better determine the parameters that influence the total distance covered in patients with Pompe disease. Read More

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Altered electrical properties in skeletal muscle of mice with glycogen storage disease type II.

Sci Rep 2022 03 29;12(1):5327. Epub 2022 Mar 29.

Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, 02215, USA.

Electrical impedance methods, including electrical impedance myography, are increasingly being used as biomarkers of muscle health since they measure passive electrical properties of muscle that alter in disease. One disorder, Pompe Disease (Glycogen storage disease type II (GSDII)), remains relatively unstudied. This disease is marked by dramatic accumulation of intracellular myofiber glycogen. Read More

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L-alanine supplementation in Pompe disease (IOPD): a potential therapeutic implementation for patients on ERT? A case report.

Ital J Pediatr 2022 Mar 28;48(1):48. Epub 2022 Mar 28.

Clinical Department of Pediatrics, San Paolo Hospital, ASST Santi Paolo E Carlo, University of Milan, Via Antonio di Rudinì 8, 20142, Milan, Italy.

Background: Pompe disease (PD) is a disorder of glycogen metabolism conditioning a progressive and life conditioning myopathy. Enzyme replacement therapy (ERT) is currently the best treatment option for PD, but is not resolutive. While other potential therapeutic approaches have been reported before, these have never been tried as co- treatments. Read More

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Macroglossia: A potentially severe complication of late-onset Pompe disease.

Eur J Neurol 2022 Jul 1;29(7):2121-2128. Epub 2022 Apr 1.

Neurology Department, APHP, Raymond Poincaré University Hospital, Garches, France.

Background: Pompe disease is a rare neuromuscular disorder caused by a deficiency of a lysosomal enzyme, acid α-glucosidase. Macroglossia is a classic clinical sign of several inherited myopathies and has also been reported to occur progressively in late-onset Pompe disease (LOPD).

Methods: We describe patients with LOPD and macroglossia included in the French national Pompe disease registry. Read More

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Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment.

BMJ Case Rep 2022 Mar 9;15(3). Epub 2022 Mar 9.

Paediatric Unit, Lady Ridgeway Hospital for Children, Borella, Western, Sri Lanka.

Pompe disease is an autosomal-recessive inherited disorder of glycogen metabolism due to lysosomal acid alpha-glucosidase deficiency. The infantile-onset form is rapidly fatal if left untreated and presents with respiratory symptoms, a typical encounter during infancy. We discuss two infants presenting with respiratory symptoms since early infancy and found to have cardiomegaly, hypotonia, elevated muscle enzymes, leading to the diagnosis of Pompe disease with genetic confirmation. Read More

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Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel.

Ital J Pediatr 2022 Mar 5;48(1):41. Epub 2022 Mar 5.

Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.

Background: Classic infantile onset of Pompe disease (c-IOPD) leads to hypotonia and hypertrophic cardiomyopathy within the first days to weeks of life and, without treatment, patients die of cardiorespiratory failure in their first 1-2 years of life. Enzymatic replacement therapy (ERT) with alglucosidase alfa is the only available treatment, but adverse immune reactions can reduce ERT's effectiveness and safety. It is therefore very important to identify strategies to prevent and manage these complications. Read More

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Mild disease course of SARS-CoV-2 infections and mild side effects of vaccination in Pompe disease: a cohort description.

Orphanet J Rare Dis 2022 03 4;17(1):102. Epub 2022 Mar 4.

Center for Lysosomal and Metabolic Diseases, Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands.

Introduction: Patients with Glycogen Storage Disease type II (GSDII), an inheritable metabolic myopathy also known as Pompe disease, are considered to be at risk for severe COVID-19 due to a reduced respiratory function and a tendency to be overweight. However, so far little is known about the course of SARS-CoV-2 infection and side effects of COVID-19 vaccinations in patients with GSDII.

Methods: 169 Dutch Pompe patients are followed at the Erasmus MC Rotterdam. Read More

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Six-Minute Walk Distance Is a Useful Outcome Measure to Detect Motor Decline in Treated Late-Onset Pompe Disease Patients.

Cells 2022 01 20;11(3). Epub 2022 Jan 20.

Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, 3000 Leuven, Belgium.

Late-onset Pompe disease (LOPD) is a rare, progressive disorder characterized by limb-girdle muscle weakness and/or respiratory insufficiency, caused by acid alpha-glucosidase () gene mutations and treated with enzyme replacement therapy. We studied isometric muscle strength in eight muscle groups bilaterally using a Biodex dynamometer, as well as the Medical Research Council sum score (MRC-SS), hand grip strength, 6 min walk distance (6MWD), 10 m walk test (10MWT) and timed up-and-go test (TUG) in 12 adult, ambulatory, treated LOPD patients and 12 age-/gender-matched healthy controls, every 6 months for 2 years. The mean isometric muscle strength showed a significant decline in right and left knee extensors at 12 months in controls ( < 0. Read More

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January 2022

Esophageal diffuse spasms in patient with Pompe disease.

Med Clin (Barc) 2022 06 9;158(11):567. Epub 2022 Feb 9.

Hospital Clínic Barcelona (A.U.), University of Barcelona, Barcelona, Spain; Muscle Research Unit, Internal Medicine Service, Hospital Clínic de Barcelona, Barcelona, Spain; CIBERER, Spain. Electronic address:

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Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening.

Mol Genet Metab 2022 03 23;135(3):179-185. Epub 2022 Jan 23.

Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA. Electronic address:

Purpose: Thoroughly phenotype children with late-onset Pompe disease (LOPD) diagnosed via newborn screening (NBS) to provide guidance for long-term follow up.

Methods: Twenty infants ages 6-21 months with LOPD diagnosed by NBS underwent systematic clinical evaluation at Duke University including cardiac imaging, biomarker testing, physical therapy evaluation, and speech-language pathology evaluation.

Results: Of the 20 infants, four were homozygous for the "late-onset" IVS1 splice site variant c. Read More

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Emergency treatment and diagnosis of Pompe disease with chronic type II respiratory failure: A case report.

Asian J Surg 2022 04 2;45(4):1020-1021. Epub 2022 Feb 2.

Department of Emergency, Aerospace Center Hospital, Beijing, 100049, China. Electronic address:

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Long-term effects of enzyme replacement therapy in an elderly cohort of late-onset Pompe disease.

Neuromuscul Disord 2022 03 13;32(3):195-205. Epub 2022 Jan 13.

Department of Neurology, Neuromuscular Diseases Section, University Hospital Bonn, Venusberg-Campus 1, 53127 Bonn, Germany; Center for Rare Diseases, University Hospital of Bonn, Venusberg-Campus 1, 53127 Bonn, Germany. Electronic address:

Enzyme replacement therapy (ERT) with recombinant human acid alpha-glucosidase (rhGAA) in late-onset Pompe disease (LOPD) shows beneficial effects in the first years often followed by a decline. We aimed to examine long-term ERT effects in an elderly LOPD cohort. Patients with age at diagnosis/start of ERT >50 years and ERT duration > seven years were included. Read More

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Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease.

Orphanet J Rare Dis 2022 02 2;17(1):31. Epub 2022 Feb 2.

Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.

Background: Enzyme replacement therapy (ERT) with recombinant human alpha-glucosidase (rhGAA, alglucosidase alfa) has improved survival, motor outcomes, daily life activity and quality of life in Pompe patients. However, ERT in Pompe disease often induces formation of antibodies, which may reduce the efficacy of treatment and can lead to adverse events. In this study antibody formation and their effect on clinical outcome in patients with childhood onset Pompe disease treated with enzyme replacement therapy (ERT) with recombinant human alpha-glucosidase (rhGAA) are analyzed. Read More

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February 2022

Minimum Effective Dose to Achieve Biochemical Correction with Adeno-Associated Virus Vector-Mediated Gene Therapy in Mice with Pompe Disease.

Hum Gene Ther 2022 05 27;33(9-10):492-498. Epub 2022 Apr 27.

Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA.

Pompe disease is an autosomal recessive lysosomal storage disorder caused by deficiency of acid α-glucosidase (GAA), resulting in skeletal muscle weakness and cardiomyopathy. Muscle weakness progresses despite currently available therapy, which has prompted the development of gene therapy with adeno-associated virus (AAV) type 2 vectors cross-packaged as AAV8 (2/8). Preclinical studies of gene therapy demonstrated that the minimum effective dose (MED) for biochemical correction with AAV2/8-LSPhGAA was ∼2 × 10 vector genomes (vg)/kg body weight. Read More

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Fetal therapies and trials for lysosomal storage diseases: a survey of attitudes of parents and patients.

Orphanet J Rare Dis 2022 01 29;17(1):25. Epub 2022 Jan 29.

Fetal Treatment Center, University of California, San Francisco, CA, USA.

Background: Lysosomal storage diseases (LSDs) are inherited metabolic disorders that may lead to severe multi-organ disease. Current ERTs are limited by anti-drug antibodies, the blood-brain barrier, and early disease onset and progression before ERT is started. We have opened a phase I clinical trial of enzyme replacement therapy (ERT) for fetuses with LSDs (NCT04532047). Read More

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January 2022

Efficacious Androgen Hormone Administration in Combination with Adeno-Associated Virus Vector-Mediated Gene Therapy in Female Mice with Pompe Disease.

Hum Gene Ther 2022 05 4;33(9-10):479-491. Epub 2022 May 4.

Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA.

Pompe disease is an autosomal recessive lysosomal storage disorder caused by deficiency of acid α-glucosidase (GAA), resulting in skeletal muscle weakness and cardiomyopathy that progresses despite currently available therapy in some patients. The development of gene therapy with adeno-associated virus (AAV) vectors revealed a sex-dependent decrease in efficacy in female mice with Pompe disease. This study evaluated the effect of testosterone on gene therapy with an AAV2/8 vector containing a liver-specific promoter to drive expression of GAA (AAV2/8-LSPhGAA) in female GAA-knockout (KO) mice that were implanted with pellets containing testosterone propionate before vector administration. Read More

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5--Branched Deoxynojirimycin: Strategy for Designing a 1-Deoxynojirimycin-Based Pharmacological Chaperone with a Nanomolar Affinity for Pompe Disease.

J Med Chem 2022 02 24;65(3):2329-2341. Epub 2022 Jan 24.

Beijing National Laboratory for Molecular Science (BNLMS), CAS Key Laboratory of Molecular Recognition and Function, Institute of Chemistry, Chinese Academy of Sciences, Beijing 100190, China.

In recent years, the function of pharmacological chaperones as a "thermodynamic stabilizer" has been attracting attention in combination therapy. The coadministration of a pharmacological chaperone and recombinant human acid α-glucosidase (rhGAA) leads to improved stability and maturation by binding to the folded state of the rhGAA and thereby promotes enzyme delivery. This study provides the first example of a strategy to design a high-affinity ligand toward lysosomal acid α-glucosidase (GAA) focusing on alkyl branches on 1-deoxynojirimycin (DNJ); 5--heptyl-DNJ produced a nanomolar affinity for GAA with a value of 0. Read More

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February 2022

Clinical manifestations and acid alpha-glucosidase mutation characterisation of a cohort of patients with late-onset Pompe disease in eastern China.

Ann Transl Med 2021 Dec;9(24):1803

Department of Geriatrics, The First Affiliated Hospital of Nanjing Medical University, Nanjing Medical University, Nanjing, China.

Background: Pompe disease is a rare, progressive, and life-threatening autosomal recessive disorder. In its late-onset form, the disease is primarily characterised by mild progressive proximal limb and respiratory muscle weakness. Mutations in the acid alpha-glucosidase () gene cause lysosomal enzyme GAA to be significantly reduced or missing altogether, for which supplementation can be given through enzyme replacement therapy. Read More

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December 2021

Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening.

J Pediatr 2022 05 4;244:139-147.e2. Epub 2022 Jan 4.

Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University College of Medicine, Taipei, Taiwan. Electronic address:

Objective: To determine the outcomes of patients with later-onset Pompe disease (LOPD) identified through newborn screening (NBS).

Study Design: A prospective observational cohort study was conducted from the initiation of Pompe disease NBS by following subjects every 3-12 months for motor development and biochemical markers.

Results: Between 2005 and 2018, 39 of 994 975 newborns evaluated were classified as having LOPD based on low acid α-glucosidase (GAA) activity but no cardiac involvement at the time of screening. Read More

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