Case Reports
Niemann-Pick disease in association with homozygous hemoglobin E: a case report
- PMID: 538505
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Case Reports
Niemann-Pick disease in association with homozygous hemoglobin E: a case report
Southeast Asian J Trop Med Public Health.
1979 Dec.
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.
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