Results 141 to 150 of about 2,044 (163)

The prenatal diagnosis of congenital disorders of glycosylation (CDG)

Prenatal Diagnosis, 2004
Gert, Matthijs, Els, Schollen, Emile, Van Schaftingen   +2 more
openaire   +2 more sources

Congenital Disorder of Glycosylation (CDG) - Ih

Congenital Disorders of Glycosylation (CDG) comprise a rapidly growing group of multisystemic inherited disorders caused by mutations in genes which are required for the biosynthesis of glycoproteins. Here the molecular defect in a new type of CDG with an unusual clinical phenotype and a difficult way of detection is described.
Thiel, Christian, Figura, Kurt von, Georg-August-Universität Göttingen, Figura, Kurt von, Gottschalk, Gerhard   +4 more
openaire   +1 more source

A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of N-glycosylation (CDG)

Clinical Chemistry and Laboratory Medicine, 2021
Rita Barone, Carlo Dionisi-Vici, Sabrina Malvagia   +2 more
exaly  

Congenital Disorders of Glycosylation (CDG): Update and Perspectives

Current Pediatric Reviews, 2006
Renate Zeevaert, Els Schollen, Hubert Carchon, Gert Matthijs, Jaak Jaeken   +4 more
openaire   +1 more source

Hair changes in congenital disorders of glycosylation (CDG type 1)

European Journal of Pediatrics, 2003
Margherita, Silengo, Mariella, Valenzise, Severo, Pagliardini, Marco, Spada   +3 more
openaire   +2 more sources

[CDG syndrome(congenital disorders of glycosylation)].

Ryoikibetsu shokogun shirizu, 2001
I, Yuasa, K, Ohno
openaire   +1 more source

Molecular diagnostic testing for congenital disorders of glycosylation (CDG): Detection rate for single gene testing and next generation sequencing panel testing

Molecular Genetics and Metabolism, 2013
Lora Bean, Madhuri Hegde
exaly  

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

Heart Failure Reviews, 2012
Tuvia Ben Gal, Eva Morava, Livia Kapusta   +2 more
exaly  

Congenital Disorders of Glycosylation (CDG), Neuromuscular Related Diseases

2019
Yoshinao Wada, Tadashi Suzuki, Tamao Endo   +2 more
openaire   +1 more source

RECURRENT THROMBO-EMBOLISM IN A CHILD WITH A CONGENITAL DISORDER OF GLYCOSYLATION (CDG) TYPE IB AND TREATMENT WITH MANNOSE

Pediatric Hematology and Oncology, 2008
W A Kamps, F J Van Spronsen
exaly