Search on:
TARUI DISEASE
Descriptors Found:
1
Displaying:
1 .. 1
1 / 1
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:
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
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
RA
radiography
RI
radionuclide imaging
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
US
ultrasonography
UR
urine
VE
veterinary
VI
virology
Record Number:
24397
Unique Identifier:
D006014
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS