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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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| 主要な著者: | , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
1974
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1947828/ https://ncbi.nlm.nih.gov/pubmed/4412885 |
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