一名老年患者中存在纯合子p.Arg610del基因型的酸性鞘磷脂酶缺乏症：一例罕见病例报告 - Suppr

Acid sphingomyelinase deficiency with homozygous p.Arg610del genotype in an elderly patient: a rare case report.

作者信息

Bridi Guilherme das Posses, Kairalla Ronaldo Adib, Sawamura Márcio Valente Yamada, Baldi Bruno Guedes

机构信息

. Divisao de Pneumologia, Instituto do Coracao, Hospital das Clinicas - HCFMUSP - Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo (SP) Brasil.

. Instituto de Radiologia, Hospital das Clínicas - HCFMUSP - Faculdade de Medicina, Universidade de São Paulo, São Paulo (SP) Brasil.

出版信息

J Bras Pneumol. 2024 Dec 6;50(5):e20240192. doi: 10.36416/1806-3756/e20240192.

DOI:10.36416/1806-3756/e20240192

PMID:39661834

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11601092/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/719e/11601092/08059f6aa412/1806-3756-jbpneu-50-05-e20240192-gf1.jpg

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Acid sphingomyelinase deficiency with homozygous p.Arg610del genotype in an elderly patient: a rare case report.

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