Expresión de búsqueda:
REFSUM DISEASE, INFANTILE
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DeCS
Descriptor
Inglés
:
Refsum Disease, Infantile
Descriptor
Español
:
Enfermedad de Refsum Infantil
Descriptor
Portugués
:
Doença de Refsum Infantil
Sinónimos
Inglés
:
Infantile Refsum Disease
Categoría:
C10.228.140.163.100.844
C16.320.565.189.844
C16.320.565.663.865
C18.452.132.100.844
C18.452.648.189.844
C18.452.648.663.865
Definición
Inglés
:
An early onset form of
phytanic acid
storage
disease
with clinical and biochemical signs different from those of
REFSUM DISEASE
. Features include MENTAL RETARDATION;
SENSORINEURAL HEARING LOSS
;
OSTEOPOROSIS
; and severe liver damage. It can be caused by
mutation
in a number of genes encoding
proteins
involving in the biogenesis or assembly of
PEROXISOMES.
Nota de Indización
Inglés
:
do not confuse with
REFSUM DISEASE
Nota Histórica
Inglés
:
2007; use PEROXISOMAL DISORDERS 1996-2006
Calificadores Permitidos
Inglés
:
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 del Registro:
52110
Identificador Único:
D052919
Ocurrencia en la BVS
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS