Associated Papers
Systems-Level Integration of Multi-Omics Identifies Genetic Modifiers of TANGO2 Deficiency Disorder.
Airoldi M et al.
Biomolecules, 2025
Coagulation abnormalities and vascular complications are common in PGM1-CDG.
Radenkovic S et al.
Molecular Genetics and Metabolism, 2024
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers.
Kruijt N et al.
European Journal of Neurology, 2021
PSCAN: Spatial scan tests guided by protein structures improve complex disease gene discovery and signal variant detection.
Tang ZZ et al.
Genome Biology, 2020
Identification of type 2 diabetes loci in 433,540 East Asian individuals.
Spracklen CN et al.
Nature, 2020
Congenital disorder of glycosylation type 1T with a novel truncated homozygous mutation in PGM1 gene and literature review.
Tian WT et al.
Neuromuscular Disorders : Nmd, 2019
Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion.
Yokoi K et al.
Jimd Reports, 2019
Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency.
Abu Bakar N et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2018
Oral D-galactose supplementation in PGM1-CDG.
Wong SY et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose.
Voermans NC et al.
Neuromuscular Disorders : Nmd, 2017
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.
Wong SY et al.
The Journal of Pediatrics, 2016
Genome-wide analysis correlates Ayurveda Prakriti.
Govindaraj P et al.
Scientific Reports, 2015
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.
Samorodnitsky E et al.
Human Mutation, 2015
Mutations in hereditary phosphoglucomutase 1 deficiency map to key regions of enzyme structure and function.
Beamer LJ
Journal of Inherited Metabolic Disease, 2015
Compromised catalysis and potential folding defects in in vitro studies of missense mutants associated with hereditary phosphoglucomutase 1 deficiency.
Lee Y et al.
The Journal of Biological Chemistry, 2014
Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.
Nasuno T et al.
Cancer Science, 2014