Southeast Asian Journal of Tropical Medicine and Public Health. Vol.10, No.4 (1979), 562-567
Suggested Citation
V. S. Tanphaichitr, V. Suvatte, S. Tuchinda, C. Mahasandana, D. A. Wenger Niemann-Pick disease in association with homozygous hemoglobin E: A case report. Southeast Asian Journal of Tropical Medicine and Public Health. Vol.10, No.4 (1979), 562-567. Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/13227
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Niemann-Pick disease in association with homozygous hemoglobin E: A case report
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.