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Combined Emphysema and Interstitial Lung Disease as a Rare Presentation of Pulmonary Involvement in a Patient with Chronic Visceral Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B)
Patient: Male, 45-year-old Final Diagnosis: Niemann-Pick disease type B Symptoms: Hepatosplenomegaly • lung fibrosis Medication: — Clinical Procedure: — Specialty: Pulmonology OBJECTIVE: Rare disease BACKGROUND: Niemann-Pick disease is a rare genetic disorder caused by mutations in sphingomyelin pho...
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| Publié dans: | Am J Case Rep |
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| Auteurs principaux: | , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
International Scientific Literature, Inc.
2020
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7431013/ https://ncbi.nlm.nih.gov/pubmed/32759889 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12659/AJCR.923394 |
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