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Last Updated: 10/31/2025
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Found 98 publications
Targeting the Metabolic Enzyme PGAM2 Overcomes Enzalutamide Resistance in Castration-Resistant Prostate Cancer by Inhibiting BCL2 Signaling.
Journal: Cancer research
Published: January 30, 2023
Identification and functional analysis of a novel de novo missense mutation located in the initiation codon of LAMP2 associated with early onset female Danon disease.
Journal: Molecular genetics & genomic medicine
Published: December 07, 2022
Integrative network-based approaches identified systems-level molecular signatures associated with gallbladder cancer pathogenesis from gallstone diseases.
Journal: Journal of biosciences
Published: October 12, 2022
Sumoylation-deficient phosphoglycerate mutase 2 impairs myogenic differentiation.
Journal: Frontiers in cell and developmental biology
Published: September 23, 2022
A 78-year-old Japanese male with late-onset PHKA1-associated distal myopathy: Case report and literature review.
Journal: Neuromuscular disorders : NMD
Published: October 20, 2021
Maximal Multistage Shuttle Run Test-induced Myalgia in a Patient with Muscle Phosphorylase B Kinase Deficiency.
Journal: Internal medicine (Tokyo, Japan)
Published: October 07, 2021
Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X.
Journal: European journal of medical genetics
Published: May 04, 2021
Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX.
Journal: Molecular genetics and metabolism
Published: July 25, 2020
Sex Differences and the Influence of an Active Lifestyle on Adiposity in Patients with McArdle Disease.
Journal: International journal of environmental research and public health
Published: May 21, 2020
An unusual case of recurrent episodes of muscle weakness: Co-occurrence of Andersen-Tawil syndrome and glycogen storage disease type IXd.
Journal: Neuromuscular disorders : NMD
Published: December 24, 2019
Pulmonary growth abnormalities as etiologies for pediatric pulmonary hypertension.
Journal: Pediatric pulmonology
Published: August 27, 2019
Pulmonary involvement in selected lysosomal storage diseases and the impact of enzyme replacement therapy: A state-of-the art review.
Journal: The clinical respiratory journal
Published: October 12, 2018
Last Updated: 10/31/2025