Associated Papers
Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort.
Moghimi P et al.
Biochemical Genetics, 2025
New perspectives for the treatment and follow-up of glycogen storage disease type V: DL-3-hydroxybutyric acid with modified Atkins diet and quadriceps femoris shear wave elastography.
Özsaydı Aktaşoğlu E et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2024
The evaluation of inherited metabolic diseases presenting with rhabdomyolysis from Turkey: Single center experience.
Bilgin H et al.
Molecular Genetics and Metabolism Reports, 2024
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.
Invernizzi F et al.
Genes, 2023
Patient-Reported Experiences with a Low-Carbohydrate Ketogenic Diet: An International Survey in Patients with McArdle Disease.
Løkken N et al.
Nutrients, 2023
Evaluation of Glycogen Storage Patients: Report of Twelve Novel Variants and New Clinical Findings in a Turkish Population.
Ersoy M et al.
Genes, 2021
Phenotype and genotype of 197 British patients with McArdle disease: An observational single-centre study.
Pizzamiglio C et al.
Journal of Inherited Metabolic Disease, 2021
McArdle Disease: Clinical, Biochemical, Histological and Molecular Genetic Analysis of 60 Patients.
Joshi PR et al.
Biomedicines, 2020
Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease.
Inal-Gültekin G et al.
Neuromuscular Disorders : Nmd, 2017
Differential Muscle Involvement in Mice and Humans Affected by McArdle Disease.
Krag TO et al.
Journal of Neuropathology and Experimental Neurology, 2016
Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease.
Piirilä P et al.
Frontiers in Neurology, 2016
McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.
Nogales-Gadea G et al.
Human Mutation, 2015
PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease?
de Luna N et al.
Neuromuscular Disorders : Nmd, 2014
Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations.
Vieitez I et al.
Neuromuscular Disorders : Nmd, 2011
McArdle disease: molecular genetic update.
Andreu AL et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2007
Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations.
Deschauer M et al.
Journal of Neurology, 2007
A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.
Rubio JC et al.
Human Mutation, 2007
Molecular genetics of McArdle's disease.
Nogales-Gadea G et al.
Current Neurology and Neuroscience Reports, 2007