Niemann-Pick disease in association with homozygous hemoglobin E: a case report.
Southeast Asian J Trop Med Public Health
;
1979 Dec; 10(4): 562-7
Artigo
em Inglês
| IMSEAR
| ID: sea-31302
ABSTRACT
The first case of Niemann-Pick disease Type A in a Thai infant was reported. The patient also had abnormal hemoglobin E. The diagnosis was based on the clinical features, bone marrow findings and sphingomyelinase levels in the culture of skin fibroblasts. The autosomal recessive mode of inheritance was confirmed in this case.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Pele
/
Esfingomielina Fosfodiesterase
/
Esplenomegalia
/
Exame de Medula Óssea
/
Feminino
/
Humanos
/
Hemoglobina E
/
Hemoglobinas Anormais
/
Doenças de Niemann-Pick
/
Hepatomegalia
Idioma:
Inglês
Revista:
Southeast Asian J Trop Med Public Health
Ano de publicação:
1979
Tipo de documento:
Artigo
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