Literature DB >> 16435229

Elevation of plasma aspartylglucosaminidase is a useful marker for the congenital disorders of glycosylation type I (CDG I).

M Jackson1, P Clayton, S Grunewald, G Keir, K Mills, P Mills, B Winchester, V Worthington, E Young.   

Abstract

Elevated plasma aspartylglucosaminidase activity was found in 21/25 cases of CDG Ia, in single cases of CDG Ib, Ic and If, and in 15/16 cases of CDG Ix. The CDG I patients in whom the activity was not raised were either atypical clinically (CDG Ia) or very young (CDG Ih).

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Year:  2005        PMID： 16435229     DOI： 10.1007/s10545-005-0157-z

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.750


  3 in total

Review 1.  The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement.

Authors:  J Jaeken; H Stibler; B Hagberg
Journal:  Acta Paediatr Scand Suppl       Date:  1991

2.  Carbohydrate-deficient glycoprotein syndrome: normal glycosylation in the fetus.

Authors:  P Clayton; B Winchester; E Di Tomaso; E Young; G Keir; C Rodeck
Journal:  Lancet       Date:  1993-04-10       Impact factor: 79.321

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
  3 in total
  5 in total

1.  ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.

Authors:  Daniah Albokhari; Bobby G Ng; Alis Guberinic; Earnest James Paul Daniel; Nicole M Engelhardt; Rita Barone; Agata Fiumara; Livia Garavelli; Gabriele Trimarchi; Lynne Wolfe; Kimiyo M Raymond; Eva Morava; Miao He; Hudson H Freeze; Christina Lam; Andrew C Edmondson
Journal:  J Inherit Metab Dis       Date:  2022-06-30       Impact factor: 4.750

Review 2.  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

Review 3.  Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review.

Authors:  E J Footitt; A Karimova; M Burch; T Yayeh; T Dupré; S Vuillaumier-Barrot; I Chantret; S E H Moore; N Seta; S Grunewald
Journal:  J Inherit Metab Dis       Date:  2009-09-07       Impact factor: 4.982

4.  Detection of differentially expressed wound-healing-related glycogenes in galectin-3-deficient mice.

Authors:  Chandrassegar Saravanan; Zhiyi Cao; Steven R Head; Noorjahan Panjwani
Journal:  Invest Ophthalmol Vis Sci       Date:  2009-07-30       Impact factor: 4.799

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
  5 in total

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