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Literature DB >> 12872840

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.

Entities: Disease Gene Species

Mesh：

Year: 2003 PMID： 12872840 DOI： 10.1023/a:1024023429680

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982

13 in total

1. Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.

Authors: Bengt Hansske; Christian Thiel; Torben Lübke; Martin Hasilik; Stefan Höning; Verena Peters; Peter H Heidemann; Georg F Hoffmann; Eric G Berger; Kurt von Figura; Christian Körner
Journal: J Clin Invest Date: 2002-03 Impact factor: 14.808

Review 2. Screening for "prelysosomal disorders": carbohydrate-deficient glycoprotein syndromes.

Authors: M C Patterson
Journal: J Child Neurol Date: 1999-11 Impact factor: 1.987

3. Defect in N-glycosylation of proteins is tissue-dependent in congenital disorders of glycosylation Ia.

Authors: T Dupré; A Barnier; P de Lonlay; V Cormier-Daire; G Durand; P Codogno; N Seta
Journal: Glycobiology Date: 2000-12 Impact factor: 4.313

4. Carbohydrate-deficient glycoprotein syndrome type II.

Authors: J Jaeken; P De Cock; H Stibler; C Van Geet; J Kint; V Ramaekers; H Carchon
Journal: J Inherit Metab Dis Date: 1993 Impact factor: 4.982

5. Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS.

Authors: M Aebi; A Helenius; B Schenk; R Barone; A Fiumara; E G Berger; T Hennet; T Imbach; A Stutz; C Bjursell; A Uller; J G Wahlström; P Briones; E Cardo; P Clayton; B Winchester; V Cormier-Dalre; P de Lonlay; M Cuer; T Dupré; N Seta; T de Koning; L Dorland; F de Loos; L Kupers
Journal: Glycoconj J Date: 1999-11 Impact factor: 2.916

6. beta-hexosaminidase, alpha-D-mannosidase, and beta-mannosidase expression in serum from patients with carbohydrate-deficient glycoprotein syndrome type I.

Authors: T Beccari; F Mancuso; E Costanzi; C Tassi; R Barone; A Fiumara; A Orlacchio; M C Aisa; A Orlacchio
Journal: Clin Chim Acta Date: 2000-12 Impact factor: 3.786

Review 7. Carbohydrate-deficient glycoprotein syndromes: inborn errors of protein glycosylation.

Authors: G Keir; B G Winchester; P Clayton
Journal: Ann Clin Biochem Date: 1999-01 Impact factor: 2.057

Review 8. Congenital disorders of glycosylation.

Authors: J Jaeken; G Matthijs
Journal: Annu Rev Genomics Hum Genet Date: 2001 Impact factor: 8.929

9. Abnormal surface expression of sialoglycans on B lymphocyte cell lines from patients with carbohydrate deficient glycoprotein syndrome I A (CDGS I A).

Authors: M Bergmann; H J Gross; F Abdelatty; P Möller; J Jaeken; R Schwartz-Albiez
Journal: Glycobiology Date: 1998-10 Impact factor: 4.313

10. Increased expression of beta-hexosaminidase alpha chain in cultured skin fibroblasts from patients with carbohydrate-deficient glycoprotein syndrome type I.

Authors: S Ichisaka; K Ohno; I Yuasa; E Nanba; H Sakuraba; Y Suzuki
Journal: Brain Dev Date: 1998-08 Impact factor: 1.961

3 in total