Results 161 to 170 of about 6,717 (197)

Skin manifestations in CDG

Journal of Inherited Metabolic Disease, 2014
AbstractThe group of congenital disorders of glycosylation (CDG) has expanded tremendously since its first description in 1980, with around 70 distinct disorders described to date. A great phenotypic variability exists, ranging from multisystem disease to single organ involvement.
D, Rymen, J, Jaeken
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Solutions of CDG Equation and Modified CDG Equation

Communications in Theoretical Physics, 1998
This article puts forward a new way to find solutions of CDG equation. The main results are:(i) According to the Lax pair of CDG equation, we introduce the modified CDG equation. (ii) An invariance depending on two parameters of M-CDG equation is found. (iii) Some solutions for CDG equation are obtained by using the invariance.
Tian Yongbo, Cheng Yi
openaire   +1 more source

The challenge of CDG diagnosis

Molecular Genetics and Metabolism, 2019
Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases that currently includes some 130 different types. CDG diagnosis is a challenge, not only because of this large number but also because of the huge clinical heterogeneity even within a number of CDG.
R, Francisco, D, Marques-da-Silva, S, Brasil, C, Pascoal, V, Dos Reis Ferreira, E, Morava, J, Jaeken   +6 more
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WS04 CDG

2017
Es existieren verschiedenste Arten von Spielen, die versuchen, die Motivation einer Spielsituation in einen ernsten Kontext zu überführen. In diesem Artikel wird der Überbegriff „Competence Developing Games“ definiert und anhand von Beispielen erläutert.
Wolf, Martin R., König, Johannes A.
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Congenital Disorders of Glycosylation (CDG) – CDG-Krankheiten

2014
»Congenital disorders of glycosylation« (CDG; angeborene Glykosylierungskrankheiten) umfassen eine Gruppe von Stoffwechselkrankheiten, die durch eine fehlerhafte Glykosylierung von Proteinen oder Lipiden entstehen.
L. Tegtmeyer, T. Marquardt
openaire   +1 more source

Congenital Disorders of Glycosylation: CDG-I, CDG-II, and Beyond

Current Molecular Medicine, 2007
The Congenital Disorders of Glycosylation (CDG) are a collection of over 20 inherited diseases that impair protein N-glycosylation. The clinical appearance of CDG patients is quite diverse making it difficult for physicians to recognize them. A simple blood test of transferrin glycosylation status signals a glycosylation abnormality, but not the ...
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CDG or not CDG

Journal of Inherited Metabolic Disease, 2022
Hudson H. Freeze, Jaak Jaeken, Gert Matthijs   +2 more
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ALG8-CDG: new insights into an ultra-rare CDG

Molecular Genetics and Metabolism, 2021
Daniah Albokhari, Bobby Ng, Earnest Daniel, Nicole Engelhardt, Rita Barone, Kimiyo Raymond, Eva Morava-Kozicz, Miao He, Hudson Freeze, Christina Lam, Andrew Edmondson   +10 more
openaire   +1 more source

MGAT2‐CDG (CDG‐IIa) and dysmorphism

American Journal of Medical Genetics Part A, 2012
openaire   +3 more sources