Results 141 to 150 of about 2,105 (164)

A New Subtype of a Congenital Disorder of Glycosylation (CDG) with Mild Clinical Manifestations

Neuropediatrics, 2002
A boy with an unspecific symptomatology consisting of mental retardation, strabismus, hypotonia and mild ataxia was diagnosed with a congenital disorder of glycosylation (CDG). Neither cerebellar atrophy nor dysmorphic features were present.
B, Assmann, R, Hackler, V, Peters, J R, Schaefer, T, Arndt, E, Mayatepek, J, Jaeken, G F, Hoffmann   +7 more
openaire   +2 more sources

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
CIRILLO, Margherita, Valenzise M, Pagliardini S, SPADA, MARCO   +3 more
openaire   +3 more sources

Clinical features in adults with congenital disorders of glycosylation type Ia (CDG-Ia)†‡

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 2007
Donna Krasnewich, Susan Sparks
exaly  

[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 J H Bean, Madhuri Hegde, Bradford Coffee   +2 more
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
exaly