Associated Papers
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Kiewiet G et al.
International Journal of Neonatal Screening, 2024
Frequency of pathogenic germline variants in pediatric medulloblastoma survivors.
Rees D et al.
Frontiers in Oncology, 2024
Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.
Dellefave-Castillo LM et al.
Jama Cardiology, 2022
The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III.
Wang J et al.
Bmc Pediatrics, 2022
A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III.
Hijazi G et al.
Molecular Genetics and Metabolism Reports, 2021
Physical therapy assessment and whole-body magnetic resonance imaging findings in children with glycogen storage disease type IIIa: A clinical study and review of the literature.
Paschall A et al.
Molecular Genetics and Metabolism, 2021
Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III.
Perveen S et al.
American Journal of Medical Genetics. Part A, 2020
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.
Sperb-Ludwig F et al.
Molecular Genetics & Genomic Medicine, 2019
Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients.
Abdullah IS et al.
Genes & Genomics, 2019
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.
Sentner CP et al.
Journal of Inherited Metabolic Disease, 2016
Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene.
Sentner CP et al.
Jimd Reports, 2013
Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa.
Horvath JJ et al.
Molecular Genetics and Metabolism, 2012
Glycogen storage disease type III in the Irish population.
Crushell E et al.
Journal of Inherited Metabolic Disease, 2010
Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III.
Goldstein JL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010
Glycogen storage disease: clinical, biochemical, and molecular heterogeneity.
Shin YS
Seminars in Pediatric Neurology, 2006
Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.
Lucchiari S et al.
American Journal of Medical Genetics, 2002
Molecular characterization of glycogen storage disease type III.
Shen JJ et al.
Current Molecular Medicine, 2002
Novel mutations in two Japanese cases of glycogen storage disease type IIIa and a review of the literature of the molecular basis of glycogen storage disease type III.
Fukuda T et al.
Journal of Inherited Metabolic Disease, 2000
Two new mutations in the 3' coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient.
Parvari R et al.
Journal of Inherited Metabolic Disease, 1998
Prenatal diagnosis and carrier detection for glycogen storage disease type III using polymorphic DNA markers.
Shen J et al.
Prenatal Diagnosis, 1998
Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III.
Shen J et al.
Journal of Medical Genetics, 1997
A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa.
Shen J et al.
Human Mutation, 1997
Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.
Shen J et al.
The Journal of Clinical Investigation, 1996