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Early diagnosis in Niemann-Pick disease

Hepatosplenomegaly, observed on routine physical examination of a 3-month-old French-Canadian infant, was the first evidence for the possibility of Niemann-Pick disease. Vacuolated foam cells filled with phospholipid material were found in liver and bone marrow biopsy material. The absence of sphing...

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Main Authors: Toussi, Tahmouresse, Delvin, Edgar E., Glorieux, Francis H., Goldman, Hy
格式: Artigo
語言:Inglês
出版: 1974
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC1947828/
https://ncbi.nlm.nih.gov/pubmed/4412885
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