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Left ventricular "diverticulum" in a patient affected by galactosialidosis.

作者信息

Durante Alessandro, Traini Mariaemilia, Spoladore Roberto

机构信息

San Raffaele Scientific Institute and Vita-Salute San Raffaele University, Via Olgettina 60, 20132 Milan, Italy.

出版信息

Case Rep Med. 2011;2011:356056. doi: 10.1155/2011/356056. Epub 2011 Jun 26.

DOI:10.1155/2011/356056
PMID:21738533
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3123831/
Abstract

We present the case of a 35-year-old man affected by the late juvenile form of galactosialidosis. He was known for a moderate pericardial effusion which remained unchanged in the last 12 months. Last follow-up transthoracic echocardiographic examination showed a bulging of the posterior and lateral wall of the left ventricle. This finding has never been described before in galactosialidosis.

摘要

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Dental Management of a Young Child Affected by Galactosialidosis and a Gigantic Abdominal Growth.一名患半乳糖唾液酸贮积症且腹部巨大肿物患儿的牙科治疗
Case Rep Dent. 2018 Apr 1;2018:2086157. doi: 10.1155/2018/2086157. eCollection 2018.
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Galactosialidosis: review and analysis of CTSA gene mutations.半乳糖脑苷脂贮积症：CTSA 基因突变的综述与分析。
Orphanet J Rare Dis. 2013 Aug 2;8:114. doi: 10.1186/1750-1172-8-114.

本文引用的文献

1
Early-infantile galactosialidosis: prenatal presentation and postnatal follow-up.早发性婴儿半乳糖唾液酸贮积症：产前表现及产后随访
Am J Med Genet. 1999 Jul 2;85(1):38-47.
2
Juvenile galactosialidosis in a white male: a new variant.一名白人男性的青少年半乳糖唾液酸贮积症：一种新变体。
Am J Med Genet. 1988 Dec;31(4):887-901. doi: 10.1002/ajmg.1320310423.