Literature DB >> 8739980

Prenatal hypertrophic cardiomyopathy and pericardial effusion in carbohydrate-deficient glycoprotein syndrome.

M T García Silva1, J de Castro, H Stibler, R Simón, A Chasco Yrigoyen, F Mateos, I Ferrer, S Madero, J M Velasco, F Guttierrez-Larraya.   

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Year:  1996        PMID： 8739980     DOI： 10.1007/bf01799444

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


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  5 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.  Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406.

Authors:  T Martinsson; C Bjursell; H Stibler; B Kristiansson; F Skovby; J Jaeken; G Blennow; P Strömme; F Hanefeld; J Wahlström
Journal:  Hum Mol Genet       Date:  1994-11       Impact factor: 6.150

Review 3.  Carbohydrate-deficient transferrin in serum: a new marker of potentially harmful alcohol consumption reviewed.

Authors:  H Stibler
Journal:  Clin Chem       Date:  1991-12       Impact factor: 8.327

4.  Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome.

Authors:  H Stibler; J Jaeken
Journal:  Arch Dis Child       Date:  1990-01       Impact factor: 3.791

5.  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
  5 in total
  10 in total

1.  Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia.

Authors:  P Briones; M A Vilaseca; E Schollen; I Ferrer; M Maties; C Busquets; R Artuch; L Gort; M Marco; E van Schaftingen; G Matthijs; J Jaeken; A Chabás
Journal:  J Inherit Metab Dis       Date:  2002-12       Impact factor: 4.982

2.  Congenital disorder of glycosylation type Ia presenting with hydrops fetalis.

Authors:  J M van de Kamp; D J Lefeber; G J G Ruijter; S J Steggerda; N S den Hollander; S M Willems; G Matthijs; B J H M Poorthuis; R A Wevers
Journal:  J Med Genet       Date:  2006-12-08       Impact factor: 6.318

3.  The heart and pericardial effusions in CDGS-I (carbohydrate-deficient glycoprotein syndrome type I).

Authors:  B Kristiansson; H Stibler; N Conradi; B O Eriksson; W Ryd
Journal:  J Inherit Metab Dis       Date:  1998-04       Impact factor: 4.982

4.  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

5.  PMM2-CDG and sensorineural hearing loss.

Authors:  Çiğdem Seher Kasapkara; Zeren Barış; Mustafa Kılıç; Deniz Yüksel; Lies Keldermans; Gert Matthijs; Jaak Jaeken
Journal:  J Inherit Metab Dis       Date:  2017-07-31       Impact factor: 4.982

Review 6.  Metabolic cardiomyopathies.

Authors:  B Guertl; C Noehammer; G Hoefler
Journal:  Int J Exp Pathol       Date:  2000-12       Impact factor: 1.925

7.  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

Review 8.  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

9.  From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG).

Authors:  Livia Kapusta; Nili Zucker; George Frenckel; Benjamin Medalion; Tuvia Ben Gal; Einat Birk; Hanna Mandel; Nadim Nasser; Sarah Morgenstern; Andreas Zuckermann; Dirk J Lefeber; Arjen de Brouwer; Ron A Wevers; Avraham Lorber; Eva Morava
Journal:  Heart Fail Rev       Date:  2013-03       Impact factor: 4.214

10.  Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).

Authors:  Fabio Pettinato; Giovanni Mostile; Roberta Battini; Diego Martinelli; Annalisa Madeo; Elisa Biamino; Daniele Frattini; Domenico Garozzo; Serena Gasperini; Rossella Parini; Fabio Sirchia; Giuseppe Sortino; Luisa Sturiale; Gert Matthijs; Amelia Morrone; Maja Di Rocco; Renata Rizzo; Jaak Jaeken; Agata Fiumara; Rita Barone
Journal:  Cerebellum       Date:  2021-02-22       Impact factor: 3.847
  10 in total

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