AffiliationAMNCH, Tallaght, Dublin 24. firstname.lastname@example.org
MetadataShow full item record
CitationExercise induced fatigue: unfit or unwell? 2011, 104 (5):151 Ir Med J
JournalIrish medical journal
AbstractThis case report outlines the diagnoses of a rare myophosphorylase deficiency (McArdle Syndrome) in a unique way. A set of characteristic values from a Cardiopulmonary Exercise Test (CPET) combined with a typical patient history pointed to a failure of the glycolytic pathway in the skeletal muscle. McArdle Syndrome was confirmed with a skeletal muscle biopsy. There is no evidence of such a diagnostic method in the literature.
- [Late diagnosis of a McArdle disease's case (type V glycogenosis)].
- Authors: Flavier S, Rolland MO, Eude M, Fédou C, Brun JF, Maire I, Mercier J, Raynaud E
- Issue date: 2007 Sep-Oct
- Mcardle's disease. A case report.
- Authors: Dirik E, Taşkin F, Eroğlu Y, Büyükgebiz B, Selamzade M, Cevik NT
- Issue date: 1996 Jul-Sep
- [McArdle disease: report of four brothers with myophosphorylase deficiency].
- Authors: López Martín A, Baños Madrid RI, García-Estañ Candela J, García Pérez B, Pérez Bautista FJ, Salmerón P
- Issue date: 2001 Mar
- Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease.
- Authors: Vissing J, Duno M, Schwartz M, Haller RG
- Issue date: 2009 Jun
- PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease?
- Authors: de Luna N, Brull A, Lucia A, Santalla A, Garatachea N, Martí R, Andreu AL, Pinós T
- Issue date: 2014 Dec