1.
Southeast Asian J Trop Med Public Health
;
1979 Dec; 10(4): 562-7
Article
in English
| 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.