Mild phenotype of glutaric aciduria type 1 in polish patients – novel data from a group of 13 cases

Glutaric aciduria type 1 is a neurometabolic disorder, caused by riboflavin-dependent glutaryl-CoA dehydrogenase deficiency. As its consequence, accumulation of the putatively neurotoxic metabolites (glutaric and 3-hydroxyglutaric acids) in body tissues, but especially within the brain, is observed....

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Detalles Bibliográficos
Autores principales: Pokora, Paulina, Jezela-Stanek, Aleksandra, Różdżyńska-Świątkowska, Agnieszka, Jurkiewicz, Elżbieta, Bogdańska, Anna, Szymańska, Edyta, Rokicki, Dariusz, Ciara, Elżbieta, Rydzanicz, Małgorzata, Stawiński, Piotr, Płoski, Rafał, Tylki-Szymańska, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2018
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6428789/
https://www.ncbi.nlm.nih.gov/pubmed/30570710
http://dx.doi.org/10.1007/s11011-018-0357-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6428789/
https://www.ncbi.nlm.nih.gov/pubmed/30570710
http://dx.doi.org/10.1007/s11011-018-0357-5

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