Literature DB >> 7618917

Carbohydrate deficient glycoprotein syndrome; multiple abnormalities and diagnostic delay.

A C Hutchesson1, R G Gray, D A Spencer, G Keir.   

Abstract

A 3 week old boy presented with abnormal thyroid function, and was treated with thyroxine. He developed multisystem disease including deafness and nephrotic syndrome, and died aged 3 months. Carbohydrate deficient glycoprotein syndrome (CDGS) was diagnosed post-mortem. CDGS should be considered in all infants with apparently unrelated multiple clinical or biochemical abnormalities.

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Year:  1995        PMID： 7618917      PMCID： PMC1511087          DOI： 10.1136/adc.72.5.445

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


  4 in total

Review 1.  The carbohydrate-deficient glycoprotein syndromes: pre-Golgi and Golgi disorders?

Authors:  J Jaeken; H Carchon; H Stibler
Journal:  Glycobiology       Date:  1993-10       Impact factor: 4.313

Review 2.  The carbohydrate-deficient glycoprotein syndromes: an overview.

Authors:  J Jaeken; H Carchon
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

3.  Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-deficient glycoprotein syndrome.

Authors:  P T Clayton; B G Winchester; G Keir
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

4.  Renal cysts in the carbohydrate-deficient glycoprotein syndrome.

Authors:  E H Strøm; P Strømme; J Westvik; S J Pedersen
Journal:  Pediatr Nephrol       Date:  1993-06       Impact factor: 3.714
  4 in total
  15 in total

Review 1.  New disorders in carbohydrate metabolism: congenital disorders of glycosylation and their impact on the endocrine system.

Authors:  Bradley S Miller; Hudson H Freeze
Journal:  Rev Endocr Metab Disord       Date:  2003-03       Impact factor: 6.514

2.  Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Answers.

Authors:  Julien Heinrich Park; Martin Weissensteiner; Oliver Wagner; Yoshinao Wada; Stephan Rust; Janine Reunert; Thorsten Marquardt
Journal:  Pediatr Nephrol       Date:  2015-05-09       Impact factor: 3.714

3.  Congenital disorders of glycosylation type I: a rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changes.

Authors:  Lucie Hertz-Pannier; Michele Déchaux; Martine Sinico; Sophie Emond; Valerie Cormier-Daire; Jean-Marie Saudubray; Francis Brunelle; Patrick Niaudet; Nathalie Seta; Pascale de Lonlay
Journal:  Pediatr Radiol       Date:  2005-11-22

4.  Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency).

Authors:  R Barone; H Carchon; E Jansen; L Pavone; A Fiumara; N U Bosshard; R Gitzelmann; J Jaeken
Journal:  J Inherit Metab Dis       Date:  1998-04       Impact factor: 4.982

5.  Carbohydrate deficient glycoprotein (CDG) syndrome type I.

Authors:  J Jaeken; G Matthijs; R Barone; H Carchon
Journal:  J Med Genet       Date:  1997-01       Impact factor: 6.318

6.  High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).

Authors:  S Grünewald; E Schollen; E Van Schaftingen; J Jaeken; G Matthijs
Journal:  Am J Hum Genet       Date:  2001-01-11       Impact factor: 11.025

7.  Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1.

Authors:  F Imtiaz; V Worthington; M Champion; C Beesley; J Charlwood; P Clayton; G Keir; N Mian; B Winchester
Journal:  J Inherit Metab Dis       Date:  2000-03       Impact factor: 4.982

8.  Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation.

Authors:  Lyndsay A Harshman; Bobby G Ng; Hudson H Freeze; Pamela Trapane; Anna Dolezal; Patrick D Brophy; Jane E Brumbaugh
Journal:  Pediatr Int       Date:  2016-06-21       Impact factor: 1.524

9.  A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report.

Authors:  Mohammed Al-Owain; Sarar Mohamed; Namik Kaya; Ahmad Zagal; Gert Matthijs; Jaak Jaeken
Journal:  Orphanet J Rare Dis       Date:  2010-04-16       Impact factor: 4.123

10.  RFT1 deficiency in three novel CDG patients.

Authors:  Wendy Vleugels; Micha A Haeuptle; Bobby G Ng; Jean-Claude Michalski; Roberta Battini; Carlo Dionisi-Vici; Mark D Ludman; Jaak Jaeken; François Foulquier; Hudson H Freeze; Gert Matthijs; Thierry Hennet
Journal:  Hum Mutat       Date:  2009-10       Impact factor: 4.878
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