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....

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Metab Brain Dis
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Springer US 2018
Aiheet:
Original Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6428789/
https://ncbi.nlm.nih.gov/pubmed/30570710
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s11011-018-0357-5
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia