Search on: GLYCOGENOSIS 8 
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Descriptor English:   Glycogen Storage Disease Type VIII 
Descriptor Spanish:   Enfermedad del Almacenamiento de Glucógeno Tipo VIII 
Descriptor Portuguese:   Doença de Depósito de Glicogênio Tipo VIII 
Synonyms English:   Glycogenosis 8  
Tree Number:   C16.320.322.217
C16.320.565.202.449.620
C18.452.648.202.449.620
Definition English:   An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon. 
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 8 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:   24398 
Unique Identifier:   D006015 

Occurrence in VHL:
 

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