Literature DB >> 22469961

Congenital disorders of glycosylation.

Amanda G Woods1, Christopher W Woods, Timothy M Snow.   

Abstract

Congenital disorders of glycosylation (CDG) are a group of disorders involving a defect in the synthesis of oligosaccharides. Oligosaccharides are fundamental for protein stability and cellular communication and are present in almost every cell in the human body. A defect in the synthesis of oligosaccharides can result in multisystemic effects. Congenital disorders of glycosylation are classified into type I and type II disorders, each with subgroup classifications. All CDGs are autosomal recessive disorders, with CDG type I being the most common. This article will explore both types of CDG, their clinical presentation, diagnosis, and management.

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Year:  2012        PMID: 22469961     DOI: 10.1097/ANC.0b013e318241cb20

Source DB:  PubMed          Journal:  Adv Neonatal Care        ISSN: 1536-0903            Impact factor:   1.968


  6 in total

1.  Congenital Disorder of Glycosylation (CDG) Presenting as Non-immune Hydrops Fetalis.

Authors:  Nalinikanta Panigrahy; Lokesh Lingappa; Akela Radha Ramadevi; Alla Venkatlakshmi
Journal:  Indian J Pediatr       Date:  2015-09-14       Impact factor: 1.967

2.  Sialic acids attached to N- and O-glycans within the Nav1.4 D1S5-S6 linker contribute to channel gating.

Authors:  Andrew R Ednie; Jean M Harper; Eric S Bennett
Journal:  Biochim Biophys Acta       Date:  2014-10-30

3.  Receptor-mediated selective impairment of insulin-like growth factor-1 activity in congenital disorders of glycosylation patients.

Authors:  Gursev S Dhaunsi
Journal:  Pediatr Res       Date:  2016-04-18       Impact factor: 3.756

4.  A case of congenital disorder of glycosylation ia presented with recurrent pericardial effusion.

Authors:  Sedat Işıkay; Osman Başpınar; Kutluhan Yılmaz
Journal:  Iran J Pediatr       Date:  2014-07-19       Impact factor: 0.364

5.  Beyond the "Jewish panel": the importance of offering expanded carrier screening to the Ashkenazi Jewish population.

Authors:  Shelley Dolitsky; Anjali Mitra; Shama Khan; Elena Ashkinadze; Mark V Sauer
Journal:  F S Rep       Date:  2020-08-07

6.  Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia.

Authors:  Chaya Murali; James T Lu; Mahim Jain; David S Liu; Ralph Lachman; Richard A Gibbs; Brendan H Lee; Daniel Cohn; Philippe M Campeau
Journal:  Mol Genet Metab Rep       Date:  2014
  6 in total

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