Pesquisa sobre:
NIEMANN-PICK DISEASE, TYPE A
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DeCS
Descritor
Inglês
:
Niemann-Pick Disease, Type A
Descritor
Espanhol
:
Enfermedad de Niemann-Pick Tipo A
Descritor
Português
:
Doença de Niemann-Pick Tipo A
Sinônimos
Inglês
:
Sphingomyelinase Deficiency Disease
Categoria:
C10.228.140.163.100.435.825.700.500
C15.604.250.410.625.500
C16.320.565.189.435.825.700.500
C16.320.565.398.641.803.730.500
C16.320.565.595.554.825.700.500
C18.452.132.100.435.825.700.500
C18.452.584.687.803.730.500
C18.452.648.189.435.825.700.500
C18.452.648.398.641.803.730.500
C18.452.648.595.554.825.700.500
Definição
Inglês
:
The classic infantile form of
Niemann-Pick Disease
, caused by
mutation
in
SPHINGOMYELIN PHOSPHODIESTERASE
. It is characterized by accumulation of
SPHINGOMYELINS
in the cells of the
MONONUCLEAR PHAGOCYTE SYSTEM
and other cell throughout the body leading to
cell death
. Clinical signs include
JAUNDICE
, hepatosplenomegaly, and severe brain damage.
Nota Histórica
Inglês
:
2007; use NIEMANN-PICK DISEASES 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:
52105
Identificador Único:
D052536
Ocorrência na BVS
:
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