Pesquisa sobre:
HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
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DeCS
Descritor
Inglês
:
Holocarboxylase Synthetase Deficiency
Descritor
Espanhol
:
Deficiencia de Holocarboxilasa Sintetasa
Descritor
Português
:
Deficiência de Holocarboxilase Sintetase
Sinônimos
Inglês
:
Carboxylase Deficiency, Multiple, Neonatal Form
Multiple Carboxylase Deficiency, Neonatal Form
Categoria:
C16.320.565.100.620.380
C16.320.565.202.720.380
C18.452.648.100.620.380
C18.452.648.202.720.380
Definição
Inglês
:
The neonatal form of
MULTIPLE CARBOXYLASE DEFICIENCY
that is caused by a defect or deficiency in holocarboxylase synthetase. HLCS is the enzyme that covalently links
biotin
to the
biotin
dependent carboxylases (propionyl-CoA-carboxylase,
pyruvate carboxylase
, and beta-methylcrotonyl-CoA carboxylase).
Relacionados
Inglês
:
Biotin
Nota Histórica
Inglês
:
2002
Qualificadores Permitidos
Inglês
:
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
Número do Registro:
36029
Identificador Único:
D028922
Ocorrência na BVS
:
Similar:
DeCS
CID-10
SciELO
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