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
Article
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Peau
/
Sphingomyeline phosphodiesterase
/
Splénomégalie
/
Myélogramme
/
Femelle
/
Humains
/
Hémoglobine E
/
Hémoglobines anormales
/
Maladies de Niemann-Pick
/
Hépatomégalie
langue:
Anglais
Texte intégral:
Southeast Asian J Trop Med Public Health
Année:
1979
Type:
Article
Documents relatifs à ce sujet
MEDLINE
...
LILACS
LIS