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.
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 C10.668.491.175.500.112 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
- Deficiency, Muscle Phosphofructokinase
- Deficiencies, Muscle Phosphofructokinase
- Muscle Phosphofructokinase Deficiencies
- Phosphofructokinase Deficiencies, Muscle
- Phosphofructokinase Deficiency, Muscle
- Muscle Phosphofructokinase Deficiency
- Glycogen Storage Disease VII
- Tarui Disease
- Disease, Tarui
- Pfkm Deficiency
- Deficiencies, Pfkm
- Deficiency, Pfkm
- Pfkm Deficiencies
- GSD VII
- Glycogenosis 7
- Tarui's Disease
- Disease, Tarui's
- Taruis Disease
|
Below are MeSH descriptors whose meaning is more general than "Glycogen Storage Disease Type VII".
Below are MeSH descriptors whose meaning is more specific than "Glycogen Storage Disease Type VII".
This graph shows the total number of publications written about "Glycogen Storage Disease Type VII" by people in this website by year, and whether "Glycogen Storage Disease Type VII" was a major or minor topic of these publications.
![]()
To see the data from this visualization as text,
click here.
Below are the most recent publications written about "Glycogen Storage Disease Type VII" by people in Profiles.
-
Phosphofructokinase deficiency (Tarui disease) associated with hepatic glucuronyltransferase deficiency (Gilbert's syndrome): a case and family study. Isr J Med Sci. 1990 Jun; 26(6):328-33.