Search on: GLYCOGEN STORAGE DISEASE TYPE VII 
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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:   Deficiencies, Muscle Phosphofructokinase
Deficiencies, Pfkm
Deficiency, Muscle Phosphofructokinase
Deficiency, Pfkm
Disease, Tarui
Disease, Tarui's
GSD VII
Glycogen Storage Disease VII
Glycogenosis 7
Muscle Phosphofructokinase Deficiencies
Muscle Phosphofructokinase Deficiency
Pfkm Deficiencies
Pfkm Deficiency
Phosphofructokinase Deficiencies, Muscle
Phosphofructokinase Deficiency, Muscle
Tarui Disease
Tarui's Disease
Taruis Disease  
Tree Number:   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
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:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   24397 
Unique Identifier:   D006014 

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