Expresión de búsqueda: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY 
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Descriptor Inglés:   Holocarboxylase Synthetase Deficiency 
Descriptor Español:   deficiencia de holocarboxilasa sintetasa 
Descriptor Portugués:   Deficiência de Holocarboxilase Sintetase 
Sinónimos Inglés:   Carboxylase Deficiency, Multiple, Neonatal Form
Deficiencies, HLCS
Deficiencies, Holocarboxylase Synthetase
Deficiency, HLCS
Deficiency, Holocarboxylase Synthetase
Deficiency, Multiple Carboxylase, Neonatal Form
Early Onset Biotin Responsive Multiple Carboxylase Deficiency
Early Onset Combined Carboxylase Deficiency
Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency
Early-Onset Combined Carboxylase Deficiency
HLCS Deficiencies
HLCS Deficiency
Holocarboxylase Synthetase Deficiencies
Infantile Multiple Carboxylase Deficiency
Multiple Carboxylase Deficiency, Early Onset
Multiple Carboxylase Deficiency, Neonatal Form  
Categoría:   C16.320.565.100.620.380
C16.320.565.202.720.380
C18.452.648.100.620.380
C18.452.648.202.720.380
Definición Inglés:   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 Inglés:   Biotin
 
Nota Histórica Inglés:   2002 
Calificadores Permitidos Inglés:  
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
Número del Registro:   36029 
Identificador Único:   D028922 

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