Pesquisa sobre:
MULTIPLE SULFATASE DEFICIENCY DISEASE
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DeCS
Descritor
Inglês
:
Multiple Sulfatase Deficiency Disease
Descritor
Espanhol
:
Enfermedad por Deficiencia de Múltiples Sulfatasas
Descritor
Português
:
Doença da Deficiência de Múltiplas Sulfatases
Categoria:
C10.228.140.163.100.435.825.850.750
C16.320.565.189.435.825.850.750
C16.320.565.398.641.803.925.750
C16.320.565.595.554.825.850.750
C18.452.132.100.435.825.850.750
C18.452.584.687.803.925.750
C18.452.648.189.435.825.850.750
C18.452.648.398.641.803.925.750
C18.452.648.595.554.825.850.750
Definição
Inglês
:
An inherited metabolic disorder characterized by the intralysosomal accumulation of sulfur-containing
lipids
(sulfatides) and
MUCOPOLYSACCHARIDES
. Excess levels of both
substrates
are present in urine. This is a disorder of multiple sulfatase (
arylsulfatases
A, B, and C) deficiency which is caused by the
mutation
of sulfatase-modifying factor-1. Neurological deterioration is rapid.
Nota Histórica
Inglês
:
2007; use SPHINGOLIPIDOSES 2000-2006
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:
52109
Identificador Único:
D052517
Ocorrência na BVS
:
Similar:
DeCS
CID-10
SciELO
LILACS
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