Glycogen

glycogen phosphorylase, muscle associated ; Homo sapiens







15 Article(s)
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Title
Pub. Year
#Total Relationships
1 33985978 Clinical Presentation and Management of Severe Acute Renal Failure in McArdle Disease. 2021 Jun 1
2 34373715 Molecular diagnosis of McArdle disease using whole-exome sequencing. 2021 Sep 1
3 32124677 Longitudinal case study and phenotypic multimodal characterization of McArdle disease-linked retinopathy: insight into pathomechanisms. 2020 Feb 1
4 32386344 A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation. 2020 Aug 3
5 28120463 Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia. 2018 Jan 3
6 29371640 Clinical utility gene card for McArdle disease. 2018 May 1
7 30011114 Missense mutations have unexpected consequences: The McArdle disease paradigm. 2018 Oct 1
8 26861723 Xanthine Oxidase Pathway and Muscle Damage. Insights from McArdle Disease. 2016 1
9 26907767 Whole exome sequencing of rare aggressive breast cancer histologies. 2016 Feb 1
10 22899091 Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin. 2013 Feb 1
11 19878922 [McArdle disease revealed by exercise intolerance associated with severe rhabdomyolysis]. 2009 Dec 1
12 18808785 [McArdle disease (gycogenosis type V): analysis of clinical, biological and genetic features of five French patients]. 2008 Nov 2
13 17915571 McArdle disease: molecular genetic update. 2007 Jul 2
14 2934518 Myopathies due to enzyme deficiencies. 1985 1
15 588100 Muscle-type phosphorylase activity present in muscle cells cultured from three patients with myophosphorylase deficiency. 1977 Dec 1