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Literature DB >> 9585601

Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.

J Jaeken, G Matthijs, J M Saudubray, C Dionisi-Vici, E Bertini, P de Lonlay, H Henri, H Carchon, E Schollen, E Van Schaftingen.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 1998 PMID： 9585601 PMCID： PMC1377152 DOI： 10.1086/301873

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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37 in total

1. Carbohydrate-deficient glycoprotein syndromes: the Italian experience.

Authors: M Di Rocco; R Barone; A Adami; A Burlina; M Carrozzi; C Dionisi-Vici; R Gatti; P Iannetti; R Parini; U Raucci; M Roccella; M Spada; A Fiumara
Journal: J Inherit Metab Dis Date: 2000-06 Impact factor: 4.982

2. Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism.

Authors: C Knopf; R Rod; J Jaeken; M Berant; E Van Schaftingen; J P Fryns; R Brill-Zamir; R Gershoni-Baruch; S Lischinsky; H Mandel
Journal: J Inherit Metab Dis Date: 2000-06 Impact factor: 4.982

Review 3. New disorders in carbohydrate metabolism: congenital disorders of glycosylation and their impact on the endocrine system.

Authors: Bradley S Miller; Hudson H Freeze
Journal: Rev Endocr Metab Disord Date: 2003-03 Impact factor: 6.514

4. A six-month-old infant with liver steatosis.

Authors: Michael O Stormon; Ernest Cutz; Katryn Furuya; Melanie Bedford; Laura Yerkes; Dean R Tolan; Annette Feigenbaum
Journal: J Pediatr Date: 2004-02 Impact factor: 4.406

Review 5. Long-standing mild hypertransaminasaemia caused by congenital disorder of glycosylation (CDG) type IIx.

Authors: P L Calvo; S Pagliardini; M Baldi; A Pucci; L Sturiale; D Garozzo; T Vinciguerra; C Barbera; J Jaeken
Journal: J Inherit Metab Dis Date: 2008-12-09 Impact factor: 4.982

6. Cryo-EM structures of human GMPPA-GMPPB complex reveal how cells maintain GDP-mannose homeostasis.

Authors: Lvqin Zheng; Zhe Liu; Yan Wang; Fan Yang; Jinrui Wang; Wenjie Huang; Jiao Qin; Min Tian; Xiaotang Cai; Xiaohui Liu; Xianming Mo; Ning Gao; Da Jia
Journal: Nat Struct Mol Biol Date: 2021-05-13 Impact factor: 15.369

7. A review of the diverse genetic disorders in the Lebanese population: highlighting the urgency for community genetic services.

Authors: Ghunwa Nakouzi; Khalil Kreidieh; Soha Yazbek
Journal: J Community Genet Date: 2014-09-27