Associated Papers
Management of presymptomatic juvenile patients with late-onset Pompe disease (LOPD).
Porcino M et al.
Neuromuscular Disorders : Nmd, 2025
Clinical features and genetic analysis of 5 cases of infantile-type glycogen storage disease type II: Case reports.
Feng Q et al.
Medicine, 2024
Pompe disease in China: clinical and molecular characteristics.
Li J et al.
Frontiers in Cardiovascular Medicine, 2023
The earliest enzyme replacement for infantile-onset Pompe disease in Japan.
Tocan V et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2022
Duchenne Muscular Dystrophy With Low Acidic α-Glucosidase Activity: Two Case Reports and Literature Review.
He X et al.
Frontiers in Pediatrics, 2022
Two Approaches for a Genetic Analysis of Pompe Disease: A Literature Review of Patients with Pompe Disease and Analysis Based on Genomic Data from the General Population.
Park KS
Children (basel, Switzerland), 2021
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 et al.
International Journal of Molecular Sciences, 2021
Design of efficacious somatic cell genome editing strategies for recessive and polygenic diseases.
Carlson-Stevermer J et al.
Nature Communications, 2020
An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease.
Kulessa M et al.
Neuropathology and Applied Neurobiology, 2020
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.
Momosaki K et al.
Journal of Human Genetics, 2019
Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13 T > G variant.
Herbert M et al.
Molecular Genetics and Metabolism, 2019
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.
Semplicini C et al.
Journal of Inherited Metabolic Disease, 2018
Interpretation of acid α-glucosidase activity in creatine kinase elevation: A case of Becker muscular dystrophy.
Oitani Y et al.
Brain & Development, 2018
A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan.
Fukuhara Y et al.
Molecular Genetics and Metabolism Reports, 2018
Bent spine syndrome as the initial symptom of late-onset Pompe disease.
Taisne N et al.
Muscle & Nerve, 2017
Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients.
Masat E et al.
Scientific Reports, 2016
[Analysis of clinical features of 6 patients with infantile type glycogen storage disease type II].
Ding J et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.
Montagnese F et al.
Journal of Neurology, 2015
Clinical and molecular genetic study of infantile-onset Pompe disease in Chinese patients: identification of 6 novel mutations.
Fu L et al.
Gene, 2014
Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.
Sampaolo S et al.
Orphanet Journal of Rare Diseases, 2013
[Clinical characteristics and prognosis of infantile-onset glycogen storage disease type II in 16 Chinese patients].
Fu LJ et al.
Zhonghua Yi Xue Za Zhi, 2013
Auditory system involvement in late onset Pompe disease: a study of 20 Italian patients.
Musumeci O et al.
Molecular Genetics and Metabolism, 2012
A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.
Herzog A et al.
Orphanet Journal of Rare Diseases, 2012
Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease.
Sacconi S et al.
Journal of Neurology, 2010
Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening.
Lukacs Z et al.
Journal of Inherited Metabolic Disease, 2010
p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?
Kroos MA et al.
European Journal of Human Genetics : Ejhg, 2008
[A retrospective study of six patients with late-onset Pompe disease].
Saux A et al.
Revue Neurologique, 2008
Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.
McCready ME et al.
Molecular Genetics and Metabolism, 2007
[Clinical and molecular genetic study on two patients of the juvenile form of Pompe disease in China].
Qiu JJ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2007
Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation.
Laforêt P et al.
Neurology, 2000
Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients.
Vorgerd M et al.
Neurogenetics, 1998
A novel acid alpha-glucosidase mutation identified in a Pakistani family with glycogen storage disease type II.
Kroos MA et al.
Journal of Inherited Metabolic Disease, 1997
Glycogenosis type II (acid maltase deficiency).
Reuser AJ et al.
Muscle & Nerve. Supplement, 1995