Literature DB >> 7848982

Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients.

A Fiumara1, R Barone, P Buttitta, M Di Pietro, A Scuderi, F Nigro, J Jaeken.   

Abstract

Four patients with carbohydrate deficient glycoprotein (CDG) syndrome type I underwent ophthalmic examination. All of them had retinitis pigmentosa with extinguished scotopic electroretinogram. The importance of CDG syndromes as one of the metabolic causes of retinal dystrophy with 'bony spicule' pigment is stressed.

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Year:  1994        PMID： 7848982      PMCID： PMC504970          DOI： 10.1136/bjo.78.11.845

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


  6 in total

Review 1.  Metabolic pigmentary retinopathies: diagnosis and therapeutic attempts.

Authors:  B T Poll-The; T Billette de Villemeur; M Abitbol; J L Dufier; J M Saudubray
Journal:  Eur J Pediatr       Date:  1992-01       Impact factor: 3.183

2.  Disialotransferrin developmental deficiency syndrome.

Authors:  B Kristiansson; M Andersson; B Tonnby; B Hagberg
Journal:  Arch Dis Child       Date:  1989-01       Impact factor: 3.791

Review 3.  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

4.  Full-field electroretinograms in patients with the carbohydrate-deficient glycoprotein syndrome.

Authors:  S Andréasson; G Blennow; B Ehinger; K Strömland
Journal:  Am J Ophthalmol       Date:  1991-07-15       Impact factor: 5.258

5.  Ocular pathology in disialotransferrin developmental deficiency syndrome.

Authors:  K Strömland; B Hagberg; B Kristiansson
Journal:  Ophthalmic Paediatr Genet       Date:  1990-12

6.  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
  6 in total
  7 in total

1.  Carbohydrate-deficient glycoprotein syndromes: the Italian experience.

Authors:  M Di Rocco; R Barone; A Adami; A Burlina; M Carrozzi; C Dionisi-Vici; R Gatti; P Iannetti; R Parini; U Raucci; M Roccella; M Spada; A Fiumara
Journal:  J Inherit Metab Dis       Date:  2000-06       Impact factor: 4.982

2.  Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG.

Authors:  Dorothy A Thompson; Ruth J Lyons; Isabelle Russell-Eggitt; Alki Liasis; Herbert Jägle; Stephanie Grünewald
Journal:  J Inherit Metab Dis       Date:  2013-02-22       Impact factor: 4.982

3.  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

4.  Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I.

Authors:  L Pavone; A Fiumara; R Barone; R Rizzo; P Buttitta; W B Dobyns; J Jaeken
Journal:  J Neurol       Date:  1996-10       Impact factor: 4.849

5.  Evolution of ophthalmic and electrophysiological findings in identical twin sisters with the carbohydrate deficient glycoprotein syndrome type 1 over a period of 14 years.

Authors:  I Casteels; W Spileers; A Leys; L Lagae; J Jaeken
Journal:  Br J Ophthalmol       Date:  1996-10       Impact factor: 4.638

6.  Ophthalmic findings in an infant with phosphomannomutase deficiency.

Authors:  Wyatt B Messenger; Paul Yang; Mark E Pennesi
Journal:  Doc Ophthalmol       Date:  2014-02-04       Impact factor: 2.379

7.  Ophthalmological and electrophysiological findings in monozygotic twin sisters with phosphomannomutase 2 deficiency (PMM2-CDG) over a period of 37 years.

Authors:  Ines Van Hees; Jaak Jaeken; Wouter Meersseman; Ingele Casteels
Journal:  GMS Ophthalmol Cases       Date:  2019-11-20
  7 in total

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