Literature DB >> 12872847

Congenital disorder of glycosylation Ib (CDG-Ib) without gastrointestinal symptoms.

D Penel-Capelle1, D Dobbelaere, J Jaeken, A Klein, M Cartigny, J Weill.   

Abstract

We report a 7-year-old girl with hyperinsulinaemic hypoglycaemia and hepatomegaly due to congenital disorder of glycosylation (CDG) Ib without gastrointestinal symptoms. Oral mannose therapy produced clinical and biochemical normalization after 2 years of treatment.

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Year:  2003        PMID： 12872847     DOI： 10.1023/a:1024044017385

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


  3 in total

1.  Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome.

Authors:  D Babovic-Vuksanovic; M C Patterson; W F Schwenk; J F O'Brien; J Vockley; H H Freeze; D P Mehta; V V Michels
Journal:  J Pediatr       Date:  1999-12       Impact factor: 4.406

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

Authors:  J Jaeken; G Matthijs; J M Saudubray; C Dionisi-Vici; E Bertini; P de Lonlay; H Henri; H Carchon; E Schollen; E Van Schaftingen
Journal:  Am J Hum Genet       Date:  1998-06       Impact factor: 11.025

Review 3.  Congenital disorders of glycosylation: the rapidly growing tip of the iceberg.

Authors:  J Jaeken; H Carchon
Journal:  Curr Opin Neurol       Date:  2001-12       Impact factor: 5.710
  3 in total
  6 in total

Review 1.  Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.

Authors:  Anna Čechová; Ruqaiah Altassan; Delphine Borgel; Arnaud Bruneel; Joana Correia; Muriel Girard; Annie Harroche; Beata Kiec-Wilk; Klaus Mohnike; Tiffany Pascreau; Łukasz Pawliński; Silvia Radenkovic; Sandrine Vuillaumier-Barrot; Luis Aldamiz-Echevarria; Maria Luz Couce; Esmeralda G Martins; Dulce Quelhas; Eva Morava; Pascale de Lonlay; Peter Witters; Tomáš Honzík
Journal:  J Inherit Metab Dis       Date:  2020-04-21       Impact factor: 4.982

2.  Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review.

Authors:  Ashwini Maratha; Hugh-Owen Colhoun; Ina Knerr; Karen P Coss; Peter Doran; Eileen P Treacy
Journal:  JIMD Rep       Date:  2016-08-09

3.  A zebrafish model of congenital disorders of glycosylation with phosphomannose isomerase deficiency reveals an early opportunity for corrective mannose supplementation.

Authors:  Jaime Chu; Alexander Mir; Ningguo Gao; Sabrina Rosa; Christopher Monson; Vandana Sharma; Richard Steet; Hudson H Freeze; Mark A Lehrman; Kirsten C Sadler
Journal:  Dis Model Mech       Date:  2012-08-16       Impact factor: 5.758

4.  The potential investment impact of improved access to accelerated approval on the development of treatments for low prevalence rare diseases.

Authors:  Brigitta E Miyamoto; Emil D Kakkis
Journal:  Orphanet J Rare Dis       Date:  2011-07-06       Impact factor: 4.123

Review 5.  CDG Therapies: From Bench to Bedside.

Authors:  Sandra Brasil; Carlota Pascoal; Rita Francisco; Dorinda Marques-da-Silva; Giuseppina Andreotti; Paula A Videira; Eva Morava; Jaak Jaeken; Vanessa Dos Reis Ferreira
Journal:  Int J Mol Sci       Date:  2018-04-27       Impact factor: 5.923

Review 6.  Hypoglycaemia related to inherited metabolic diseases in adults.

Authors:  Claire Douillard; Karine Mention; Dries Dobbelaere; Jean-Louis Wemeau; Jean-Marie Saudubray; Marie-Christine Vantyghem
Journal:  Orphanet J Rare Dis       Date:  2012-05-15       Impact factor: 4.123
  6 in total

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