Pesquisa sobre: NIEMANN-PICK DISEASE, TYPE A 
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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:   Cholesterol Lipidoses, Neuronal
Cholesterol Lipidoses, Sphingomyelin
Cholesterol Lipidosis, Neuronal
Cholesterol Lipidosis, Sphingomyelin
Classical Niemann Pick Disease
Classical Niemann-Pick Disease
Deficiencies, Sphingomyelinase
Deficiency, Sphingomyelinase
Lipidoses, Neuronal Cholesterol
Lipidoses, Sphingomyelin
Lipidoses, Sphingomyelin Cholesterol
Lipidosis, Neuronal Cholesterol
Lipidosis, Sphingomyelin
Lipidosis, Sphingomyelin Cholesterol
Neuronal Cholesterol Lipidoses
Neuronal Cholesterol Lipidosis
Niemann Pick Disease, Acute Neuronopathic Form
Niemann Pick Disease, Acute Neurovisceral Form
Niemann Pick Disease, Neuronopathic Type
Niemann Pick Disease, Type A
Niemann Pick's Disease Type A
Niemann-Pick Disease, Acute Neuronopathic Form
Niemann-Pick Disease, Acute Neurovisceral Form
Niemann-Pick Disease, Classical
Niemann-Pick Disease, Neuronopathic Type
Niemann-Pick's Disease Type A
Ophthalmoplegia, Supraoptic Vertical
Ophthalmoplegias, Supraoptic Vertical
Sphingomyelin Cholesterol Lipidoses
Sphingomyelin Cholesterol Lipidosis
Sphingomyelin Lipidoses
Sphingomyelin Lipidosis
Sphingomyelinase Deficiencies
Sphingomyelinase Deficiency
Sphingomyelinase Deficiency Disease
Sphingomyelinase Deficiency Diseases
Supraoptic Vertical Ophthalmoplegia
Supraoptic Vertical Ophthalmoplegias
Type A Niemann Pick Disease
Type A Niemann-Pick Disease
Vertical Ophthalmoplegia, Supraoptic
Vertical Ophthalmoplegias, Supraoptic  
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
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 do Registro:   52105 
Identificador Único:   D052536 

Ocorrência na BVS:
 

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