Literature DB >> 11567948

Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose.

C J Hendriksz1, P McClean, M J Henderson, D G Keir, V C Worthington, F Imtiaz, E Schollen, G Matthijs, B G Winchester.   

Abstract

An Asian girl presented with failure to thrive, congenital hepatic fibrosis, protein losing enteropathy, and hypoglycaemia. Phosphomannose isomerase activity in skin fibroblasts was reduced. She is homozygous for a mutation, D131N, in the phosphomannose isomerase gene (PM1), consistent with the diagnosis of carbohydrate deficient glycoprotein syndrome type 1b. She responded to oral mannose treatment.

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Year:  2001        PMID： 11567948      PMCID： PMC1718944          DOI： 10.1136/adc.85.4.339

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  9 in total

Review 1.  Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.

Authors:  D Marques-da-Silva; V Dos Reis Ferreira; M Monticelli; P Janeiro; P A Videira; P Witters; J Jaeken; D Cassiman
Journal:  J Inherit Metab Dis       Date:  2017-01-20       Impact factor: 4.982

2.  A sensitive green fluorescent protein biomarker of N-glycosylation site occupancy.

Authors:  Marie-Estelle Losfeld; Francesca Soncin; Bobby G Ng; Ilyas Singec; Hudson H Freeze
Journal:  FASEB J       Date:  2012-06-12       Impact factor: 5.191

3.  Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it!

Authors:  J Jaeken
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

Review 4.  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

5.  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

Review 6.  Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update.

Authors:  Jan Verheijen; Shawn Tahata; Tamas Kozicz; Peter Witters; Eva Morava
Journal:  Genet Med       Date:  2019-09-19       Impact factor: 8.822

7.  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

Review 8.  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

9.  Liver Involvement in Congenital Disorders of Glycosylation and Deglycosylation.

Authors:  Patryk Lipiński; Anna Bogdańska; Piotr Socha; Anna Tylki-Szymańska
Journal:  Front Pediatr       Date:  2021-07-05       Impact factor: 3.418
  9 in total

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