V. S. TanphaichitrV. SuvatteS. TuchindaC. MahasandanaD. A. WengerMahidol University2018-06-012018-06-011979-12-01Southeast Asian Journal of Tropical Medicine and Public Health. Vol.10, No.4 (1979), 562-567003836192-s2.0-0018632493https://repository.li.mahidol.ac.th/handle/20.500.14594/13227The 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.Mahidol UniversityMedicineArticleSCOPUS