Gaucher’s Disease (the Modern View on the Problem)

The article presents a literature review of the most common lysosomal storage diseases — Gaucher’s disease. This pathology is caused by a inherited deficiency in glucocerebrosidase that cleaves cerebrosides. Decrease glucocerebrosidase results in the sphingolipids accumulation in the reticuloendothe...

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Main Author:	V.B. Yagmur
Format:	Article
Language:	English
Published:	Publishing House Zaslavsky 2015-09-01
Series:	Gastroenterologìa
Subjects:	Gaucher’s disease glucocerebrosidase genetics enzyme replacement therapy
Online Access:	http://gastro.zaslavsky.com.ua/article/view/81538

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spelling	doaj-d3e4e864920b49c7a89b564b65aada992020-11-24T23:38:12ZengPublishing House ZaslavskyGastroenterologìa 2308-20972518-78802015-09-01493.5714715210.22141/2308-2097.3.57.2015.8153881538Gaucher’s Disease (the Modern View on the Problem)V.B. Yagmur0SI «Institute of Gastroenterology of NAMS of Ukraine», DnipropetrovskThe article presents a literature review of the most common lysosomal storage diseases — Gaucher’s disease. This pathology is caused by a inherited deficiency in glucocerebrosidase that cleaves cerebrosides. Decrease glucocerebrosidase results in the sphingolipids accumulation in the reticuloendothelial system and the health cells are substituted by defective ones. We describe the clinical manifestations of the three forms of the disease, its diagnosis algorithms and advanced specific treatment.http://gastro.zaslavsky.com.ua/article/view/81538Gaucher’s diseaseglucocerebrosidasegeneticsenzyme replacement therapy
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	V.B. Yagmur
spellingShingle	V.B. Yagmur Gaucher’s Disease (the Modern View on the Problem) Gastroenterologìa Gaucher’s disease glucocerebrosidase genetics enzyme replacement therapy
author_facet	V.B. Yagmur
author_sort	V.B. Yagmur
title	Gaucher’s Disease (the Modern View on the Problem)
title_short	Gaucher’s Disease (the Modern View on the Problem)
title_full	Gaucher’s Disease (the Modern View on the Problem)
title_fullStr	Gaucher’s Disease (the Modern View on the Problem)
title_full_unstemmed	Gaucher’s Disease (the Modern View on the Problem)
title_sort	gaucher’s disease (the modern view on the problem)
publisher	Publishing House Zaslavsky
series	Gastroenterologìa
issn	2308-2097 2518-7880
publishDate	2015-09-01
description	The article presents a literature review of the most common lysosomal storage diseases — Gaucher’s disease. This pathology is caused by a inherited deficiency in glucocerebrosidase that cleaves cerebrosides. Decrease glucocerebrosidase results in the sphingolipids accumulation in the reticuloendothelial system and the health cells are substituted by defective ones. We describe the clinical manifestations of the three forms of the disease, its diagnosis algorithms and advanced specific treatment.
topic	Gaucher’s disease glucocerebrosidase genetics enzyme replacement therapy
url	http://gastro.zaslavsky.com.ua/article/view/81538
work_keys_str_mv	AT vbyagmur gauchersdiseasethemodernviewontheproblem
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Gaucher’s Disease (the Modern View on the Problem)

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