Results 171 to 180 of about 3,013 (227)

Resolving Hexose-Phosphates by LC-MS Leads to New Insights in PGM1-CDG Pathophysiology. [PDF]

ACS Omega
Driesen K, De Craemer S, Morava E, Cassiman D, Witters P, Ghesquière B.   +5 more
europepmc   +1 more source

Myoclonus in Pediatric Metabolic Diseases: Clinical Spectrum, Mechanisms, and Treatable Causes-A Systematic Review. [PDF]

Metabolites
Majewska E, Zdort Z, Ochocka A, Paprocka J.   +3 more
europepmc   +1 more source

A new case of Rafiq syndrome with coexisting thyroid dyshormonogenesis type 6 in a Chinese patient: case report and literature review. [PDF]

Front Endocrinol (Lausanne)
Qi R, Guo H, Li R, Chang J, Wu D, Sang Y.   +5 more
europepmc   +1 more source

Case Report: Novel <i>MAGT1</i> pathogenic variant with significant atopy, hypogammaglobulinemia and viral skin infections. [PDF]

Front Immunol
Gunderman L, Ptak CP, Schutt M, Yahashiri K, Lippner E, Khojah A, Ahmed A, Khanolkar A.   +7 more
europepmc   +1 more source

Third International Workshop for Glycosylation Defects in Muscular Dystrophies, 18-19 April 2013, Charlotte, USA

Blaeser, A, Brown, S C, Campbell, K, Iowa, Levine Children's Hospital, Lu, Q, Sparks, S   +6 more
core   +1 more source

A CASE WITH RARE TYPE OF CONGENITAL DISORDER OF GLYCOSYLATION: PGM1-CDG

, 2015
Küçükçongar, A., Tümer, L., Ezgü, F. Süheyl, Kasapkara, Ç. Seher, Jaeken, Jaak, Matthijs, Gert, Rymen, Daisy, Dalgiç, B., Bıdecı, A., Hasanoğlu, A.   +9 more
openaire   +2 more sources

Genetic rescue of pathogenic O-GlcNAc dyshomeostasis associated with microcephaly and motor deficits

Authier F, Esperon-Abril I, Coquelin K, Stald Skoven C, Fristed Eskildsen S, Ondruskova N, Ferenbach AT, Thomsen JS, Hansen B, van Aalten DMF.   +9 more
europepmc   +1 more source

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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