Associated Papers
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
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
Glycogen storage diseases: An update.
Gümüş E et al.
World Journal of Gastroenterology, 2023
Clinical and Functional Characterization of Novel AGL Variants in Two Families with Glycogen Storage Disease Type III.
Yu T et al.
International Journal of Endocrinology, 2023
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
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects.
Berling É et al.
Journal of Inherited Metabolic Disease, 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
Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring.
Halaby CA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 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
A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III.
Ko JS et al.
Journal of Human Genetics, 2014
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
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
A Japanese patient with cardiomyopathy caused by a novel mutation R285X in the AGL gene.
Ogimoto A et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2007
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
A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb.
Okubo M et al.
Human Genetics, 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
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