Associated Papers
Identification of a novel nonsense mutation in the AGL gene in glycogen storage disease type IIIa: first genetically confirmed case report from Morocco.
Jakani M et al.
Molecular Biology Reports, 2025
Recurrence of Myopathy After Liver Transplantation for Patients With End-Stage GSD Type IIIa.
Wang H et al.
Transplantation Proceedings, 2025
Molecular profiles and long-term outcomes of Thai children with hepatic glycogen storage disease in Thailand.
Vanduangden J et al.
World Journal of Clinical Pediatrics, 2024
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
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
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
Molecular and clinical profiling in a large cohort of Asian Indians with glycogen storage disorders.
Kumar TV et al.
Plos One, 2022
[Analysis of two cases of glycogen storage disease type III due to compound heterozygous variants of AGL gene].
Zhang M et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021
Genotypic and clinical analysis of 49 Chinese children with hepatic glycogen storage diseases.
Liang Y et al.
Molecular Genetics & Genomic Medicine, 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Genetic analysis and long-term treatment monitoring of 11 children with glycogen storage disease type IIIa.
Du C et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020
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
Update Review about Metabolic Myopathies.
Finsterer J
Life (basel, Switzerland), 2020
Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment.
Laforêt P et al.
Acta Neuropathologica Communications, 2019
Genetic analysis and clinical assessment of four patients with Glycogen Storage Disease Type IIIa in China.
Zhang Y et al.
Bmc Medical Genetics, 2018
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
[Identification of a novel mutation of AGL gene in two siblings affected with glycogen storage disease type IIIa].
Guo L et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2017
Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations.
Lu C et al.
Journal of Human Genetics, 2016
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
Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.
Wang J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Biochemical and molecular investigation of two Korean patients with glycogen storage disease type III.
Oh SH et al.
Clinical Chemistry and Laboratory Medicine, 2008