Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2015 1
2016 12
2017 14
2018 18
2019 15
2020 19
2021 15
2022 12
2023 16
2024 14
2025 8
2026 1

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

123 results

Results by year

Filters applied: . Clear all
Page 1
Repeatedly in Rhabdomyolysis.
Gooch C, Dean SJ, Marzullo L. Gooch C, et al. Pediatr Emerg Care. 2021 Dec 1;37(12):e1759-e1760. doi: 10.1097/PEC.0000000000002079. Pediatr Emerg Care. 2021. PMID: 32205805
He was eventually diagnosed as having McArdle muscular dystrophy, or glycogen storage disease type V. His rhabdomyolysis has been severe, with a creatinine kinase level of >320,000 U/L, myoglobinuria, transaminitis, and elevated bilirubin. He …
He was eventually diagnosed as having McArdle muscular dystrophy, or glycogen storage disease type V. His …
McArdle Disease: New Insights into Its Underlying Molecular Mechanisms.
Llavero F, Arrazola Sastre A, Luque Montoro M, Gálvez P, Lacerda HM, Parada LA, Zugaza JL. Llavero F, et al. Int J Mol Sci. 2019 Nov 25;20(23):5919. doi: 10.3390/ijms20235919. Int J Mol Sci. 2019. PMID: 31775340 Free PMC article. Review.
McArdle disease, also known as glycogen storage disease type V (GSDV), is characterized by exercise intolerance, the second wind phenomenon, and high serum creatine kinase activity. ...Further, we summarize the expression an …
McArdle disease, also known as glycogen storage disease type V (GSDV), is characteri …
The impact of uric acid on musculoskeletal diseases: clinical associations and underlying mechanisms.
Zhang J, Sun N, Zhang W, Yue W, Qu X, Li Z, Xu G. Zhang J, et al. Front Endocrinol (Lausanne). 2025 Feb 4;16:1515176. doi: 10.3389/fendo.2025.1515176. eCollection 2025. Front Endocrinol (Lausanne). 2025. PMID: 39968300 Free PMC article. Review.
This review discusses the mechanisms linking SU to musculoskeletal disorders, as well as the clinical associations of SU with conditions such as sarcopenia, T2D with sarcopenia, McArdle disease, heart failure, gout, OA, IDD, OP and exercise-induced acute kidney inju …
This review discusses the mechanisms linking SU to musculoskeletal disorders, as well as the clinical associations of SU with conditions suc …
Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V.
Da Silva JD, Pereira Â, Soares AR, Guimas A, Rocha S, Cardoso M, Garrido C, Soares CA, Nunes IS, Fortuna AM, Quelhas D, Figueiroa S, Ribeiro R, Santos M, Martins E, Tkachenko N. Da Silva JD, et al. Pediatr Res. 2024 Jul;96(2):365-371. doi: 10.1038/s41390-023-02943-1. Epub 2023 Dec 5. Pediatr Res. 2024. PMID: 38052860
BACKGROUND: Glycogen storage disease type V (GSDV) is an autosomal recessive metabolic condition caused by pathogenic PYGM variants. ...We observed the first genotype-phenotype correlation in GSDV, regarding the common R50* variant …
BACKGROUND: Glycogen storage disease type V (GSDV) is an autosomal recessive metabolic condition c …
The potential of a ketogenic diet to minimize effects of the metabolic fault in glycogen storage disease V and VII.
Reason SL, Godfrey RJ. Reason SL, et al. Curr Opin Endocrinol Diabetes Obes. 2020 Oct;27(5):283-290. doi: 10.1097/MED.0000000000000567. Curr Opin Endocrinol Diabetes Obes. 2020. PMID: 32773572 Review.
RECENT FINDINGS: Carbohydrate (CHO) ingestion during physical activity in GSDV and a LCKD for GSDVII is common. For the latter, a long-term study demonstrated improvement in physiological markers while on a LCKD. This included improvement in aerobic power and activity tole …
RECENT FINDINGS: Carbohydrate (CHO) ingestion during physical activity in GSDV and a LCKD for GSDVII is common. For the latter, a lon …
Whole-body muscle MRI in McArdle disease.
Tobaly D, Laforêt P, Stojkovic T, Behin A, Petit FM, Barp A, Bello L, Carlier P, Carlier RY. Tobaly D, et al. Neuromuscul Disord. 2022 Jan;32(1):5-14. doi: 10.1016/j.nmd.2021.07.397. Epub 2021 Aug 5. Neuromuscul Disord. 2022. PMID: 34711478
This study describes muscle involvement on whole-body MRI (WB-MRI) scans at different stages of McArdle disease. WB-MRI was performed on fifteen genetically confirmed McArdle disease patients between ages 25 to 80. ...WB-MRI imaging provides clinically …
This study describes muscle involvement on whole-body MRI (WB-MRI) scans at different stages of McArdle disease. WB-MRI was pe …
Muscle MRI in McArdle Disease: A European Multicenter Observational Study.
Løkken N, Revsbech KL, Jacobsen LN, Martinuzzi A, Martin MÁ, Díaz-Manera J, Dominguez-Gonzalez C, Brondani G, Musumeci O, Granata F, Stefan C, Merino-Sanchez C, Peralta CN, Khawajazada T, Alonso-Pérez J, Toscano A, Vissing J. Løkken N, et al. Neurology. 2022 Oct 10;99(15):e1664-e1675. doi: 10.1212/WNL.0000000000200914. Neurology. 2022. PMID: 35853747
BACKGROUND AND OBJECTIVES: Glycogen storage disease type V (GSDV) or McArdle disease is a muscle glycogenosis that classically manifests with exercise intolerance and exercise-induced muscle pain. ...This study aimed to quan …
BACKGROUND AND OBJECTIVES: Glycogen storage disease type V (GSDV) or McArdle disease …
Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis.
García-Consuegra I, Asensio-Peña S, Garrido-Moraga R, Pinós T, Domínguez-González C, Santalla A, Nogales-Gadea G, Serrano-Lorenzo P, Andreu AL, Arenas J, Zugaza JL, Lucia A, Martín MA. García-Consuegra I, et al. Int J Mol Sci. 2022 Apr 22;23(9):4650. doi: 10.3390/ijms23094650. Int J Mol Sci. 2022. PMID: 35563042 Free PMC article.
Glycogen storage disease type V (GSDV, McArdle disease) is a rare genetic myopathy caused by deficiency of the muscle isoform of glycogen phosphorylase (PYGM). ...Muscle biopsies from eight patients and eight healthy control …
Glycogen storage disease type V (GSDV, McArdle disease) is a rare genetic myopathy c …
Retinopathy in McArdle Disease.
Shalaby AK, Charbel Issa P. Shalaby AK, et al. Ophthalmol Retina. 2021 Feb;5(2):117. doi: 10.1016/j.oret.2020.10.001. Ophthalmol Retina. 2021. PMID: 33549200 No abstract available.
Clinical utility gene card for McArdle disease.
Taylor RL, Davis M, Turner E, Brull A, Pinos T, Cabrera M, Nowak KJ. Taylor RL, et al. Eur J Hum Genet. 2018 May;26(5):758-764. doi: 10.1038/s41431-017-0070-6. Epub 2018 Jan 25. Eur J Hum Genet. 2018. PMID: 29371640 Free PMC article.
Name of the disease (synonyms) McArdle disease (glycogenosis type V; glycogen storage disease V (GSDV); PYGM deficiency; muscle glycogen phosphorylase deficiency; myophosphorylase deficiency). ...
Name of the disease (synonyms) McArdle disease (glycogenosis type V; glycogen storage disease V (GSDV); PYGM deficiency …
123 results