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Abnormal lysosomal inclusions in liver hepatocytes but not in fibroblasts in congenital disorders of glycosylation (CDG).

Abstract：

:We report a retrospective electron-microscopical study of liver biopsies and fibroblast cultures of 19 patients with congenital disorders of glycosylation (CDG) of different subtypes. A constant finding in liver biopsies of all CDG-I cases was that of abnormal lysosomal lamellar inclusions in the hepatocytes, which were not found in CDG-II. None of the patients showed significant abnormalities in their fibroblasts.

journal_name

J Inherit Metab Dis

journal_title

Journal of inherited metabolic disease

authors

Grünewald S,De Vos R,Jaeken J

doi

10.1023/a:1024023429680

keywords:

subject

Has Abstract

pub_date

2003-01-01 00:00:00

pages

49-54

issue

1

eissn

0141-8955

issn

1573-2665

journal_volume

26

pub_type

杂志文章

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