Glycogen Storage Disease Type VII

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Glycogen Storage Disease Type VII

"Glycogen Storage Disease Type VII" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant.

Descriptor ID	D006014
MeSH Number(s)	C05.651.534.500.149 C16.320.565.202.449.600 C16.320.577.149 C18.452.648.202.449.600
Concept/Terms	Glycogen Storage Disease Type VII Glycogen Storage Disease Type VII Glycogenosis 7 Muscle Phosphofructokinase Deficiency Pfkm Deficiency Deficiencies, Pfkm Deficiency, Pfkm Pfkm Deficiencies Tarui's Disease Disease, Tarui's Taruis Disease GSD VII Glycogen Storage Disease VII Deficiency, Muscle Phosphofructokinase Deficiencies, Muscle Phosphofructokinase Muscle Phosphofructokinase Deficiencies Phosphofructokinase Deficiencies, Muscle Phosphofructokinase Deficiency, Muscle Tarui Disease Disease, Tarui

Below are MeSH descriptors whose meaning is more general than "Glycogen Storage Disease Type VII".

Diseases [C]
Musculoskeletal Diseases [C05]
Muscular Diseases [C05.651]
Muscular Disorders, Atrophic [C05.651.534]
Muscular Dystrophies [C05.651.534.500]
Glycogen Storage Disease Type VII [C05.651.534.500.149]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Metabolism, Inborn Errors [C16.320.565]
Carbohydrate Metabolism, Inborn Errors [C16.320.565.202]
Glycogen Storage Disease [C16.320.565.202.449]
Glycogen Storage Disease Type VII [C16.320.565.202.449.600]
Muscular Dystrophies [C16.320.577]
Glycogen Storage Disease Type VII [C16.320.577.149]
Nutritional and Metabolic Diseases [C18]
Metabolic Diseases [C18.452]
Metabolism, Inborn Errors [C18.452.648]
Carbohydrate Metabolism, Inborn Errors [C18.452.648.202]
Glycogen Storage Disease [C18.452.648.202.449]
Glycogen Storage Disease Type VII [C18.452.648.202.449.600]

Below are MeSH descriptors whose meaning is more specific than "Glycogen Storage Disease Type VII".

publications

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