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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Vydáno v:Am J Case Rep
Hlavní autoři: Opoka, Lucyna, Wyrostkiewicz, Dorota, Radwan-Rohrenschef, Piotr, Roży, Adriana, Tylki-Szymańska, Anna, Tomkowski, Witold, Szturmowicz, Monika
Médium: Artigo
Jazyk:Inglês
Vydáno: International Scientific Literature, Inc. 2020
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Articles
On-line přístup: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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