Literature DB >> 16601903

Stabilization of hypoglycosylation in a patient with congenital disorder of glycosylation type Ia.

S H Hahn1, S J Minnich, J F O'Brien.   

Abstract

A follow-up over 7 years on a patient with congenital disorder of glycosylation type Ia showed a significant normalization of hypoglycosylated transferrin. Isoelectric focusing for serum transferrin is a widely used screening method but there could be a limit of detection and the subtle changes can be also overlooked. Re-test with a different method is desirable, especially when the clinical suspicion for congenital disorder of glycosylation is high.

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Year:  2006        PMID： 16601903     DOI： 10.1007/s10545-006-0210-6

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


  4 in total

1.  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

2.  Rapid determination of transferrin isoforms by immunoaffinity liquid chromatography and electrospray mass spectrometry.

Authors:  J M Lacey; H R Bergen; M J Magera; S Naylor; J F O'Brien
Journal:  Clin Chem       Date:  2001-03       Impact factor: 8.327

Review 3.  Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies.

Authors:  T Marquardt; J Denecke
Journal:  Eur J Pediatr       Date:  2003-03-15       Impact factor: 3.183

4.  Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I.

Authors:  E Van Schaftingen; J Jaeken
Journal:  FEBS Lett       Date:  1995-12-27       Impact factor: 4.124
  4 in total
  6 in total

1.  Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia).

Authors:  M Casado; M M O'Callaghan; R Montero; C Pérez-Cerda; B Pérez; P Briones; E Quintana; J Muchart; A Aracil; M Pineda; R Artuch
Journal:  Cerebellum       Date:  2012-06       Impact factor: 3.847

2.  Arrest of Fetal Brain Development in ALG11-Congenital Disorder of Glycosylation.

Authors:  Sarah B Mulkey; Bobby G Ng; Gilbert L Vezina; Dorothy I Bulas; Lynne A Wolfe; Hudson H Freeze; Carlos R Ferreira
Journal:  Pediatr Neurol       Date:  2018-12-24       Impact factor: 3.372

Review 3.  Laboratory diagnosis of congenital disorders of glycosylation type I by analysis of transferrin glycoforms.

Authors:  Dusica Babovic-Vuksanovic; John F O'Brien
Journal:  Mol Diagn Ther       Date:  2007       Impact factor: 4.074

4.  Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening.

Authors:  S Vermeer; H P H Kremer; Q H Leijten; H Scheffer; G Matthijs; R A Wevers; N A V M Knoers; E Morava; D J Lefeber
Journal:  J Neurol       Date:  2007-08-15       Impact factor: 4.849

5.  Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I.

Authors:  Mailys Guillard; Yoshinao Wada; Hana Hansikova; Isao Yuasa; Katerina Vesela; Nina Ondruskova; Machiko Kadoya; Alice Janssen; Lambertus P W J Van den Heuvel; Eva Morava; Jiri Zeman; Ron A Wevers; Dirk J Lefeber
Journal:  J Inherit Metab Dis       Date:  2011-03-23       Impact factor: 4.982

6.  Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG).

Authors:  Roman Taday; Marianne Grüneberg; Ingrid DuChesne; Janine Reunert; Thorsten Marquardt
Journal:  Orphanet J Rare Dis       Date:  2020-09-22       Impact factor: 4.123
  6 in total

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