DeCS Server - List Exact Term

Search on:	GLYCOGEN STORAGE DISEASE TYPE VII
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DeCS

Descriptor English:

Glycogen Storage Disease Type VII

Descriptor Spanish:

Enfermedad del Almacenamiento de Glucógeno Tipo VII

Descriptor Portuguese:

Doença de Depósito de Glicogênio Tipo VII

Synonyms English:

Glycogenosis 7
Tarui Disease

Tree Number:

Definition English:

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.

Indexing Annotation English:

do not use /congen & do not coord with INFANT, NEWBORN, DISEASES

History Note English:

91(89); was see under GLYCOGEN STORAGE DISEASE 1989-90; was GLYCOGENOSIS 7 see under GLYCOGENOSIS 1975-88

Allowable Qualifiers English:

Record Number:

24397

Unique Identifier:

D006014

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