Cover Image

Therapeutic modulation of cerebral l-lysine metabolism in a mouse model for glutaric aciduria type I

Show other versions (3)

Glutaric aciduria type I, an inherited deficiency of glutaryl-coenzyme A dehydrogenase localized in the final common catabolic pathway of l-lysine, l-hydroxylysine and l-tryptophan, leads to accumulation of neurotoxic glutaric and 3-hydroxyglutaric acid, as well as non-toxic glutarylcarnitine. Most...

Full description

Saved in:
Bibliographic Details
Main Authors: Sauer, Sven (Author) , Opp, Silvana (Author) , Hoffmann, Georg F. (Author) , Koeller, David M. (Author) , Okun, Jürgen G. (Author) , Kölker, Stefan (Author)
Format: Article (Journal)
Language:English
Published: 2011
In: Brain
Year: 2011, Volume: 134, Issue: 1, Pages: 157-170
ISSN:1460-2156
DOI:10.1093/brain/awq269
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1093/brain/awq269
Get full text
Author Notes:Sven W. Sauer, Silvana Opp, Georg F. Hoffmann, David M. Koeller, Jürgen G. Okun and Stefan Kölker
Search Result 1
Cover Image

β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity by Dobritzsch, Doreen (Author) , Meijer, Judith (Author) , Meinsma, Rutger (Author) , Maurer, Dirk (Author) , Monavari, Ardeshir A. (Author) , Gummesson, Anders (Author) , Reims, Annika (Author) , Cayuela, Jorge A. (Author) , Kuklina, Natalia (Author) , Benoist, Jean-François (Author) , Perrin, Laurence (Author) , Assmann, Birgit (Author) , Hoffmann, Georg F. (Author) , Bierau, Jörgen (Author) , Kaindl, Angela M. (Author) , van Kuilenburg, André B. P. (Author) ,


Get full text
Article (Journal) Online Resource

Saved in:
Search Result 2
Cover Image

Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis by Kožich, Viktor (Author) , Sokolová, Jitka (Author) , Morris, Andrew A. M. (Author) , Pavlíková, Markéta (Author) , Gleich, Florian (Author) , Kölker, Stefan (Author) , Krijt, Jakub (Author) , Dionisi-Vici, Carlo (Author) , Baumgartner, Matthias R. (Author) , Blom, Henk J. (Author) , Huemer, Martina (Author) ,


Get full text
Article (Journal) Online Resource

Saved in:
Search Result 3
Cover Image

ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation by Wolf, Nicole (Author) , Rating, Dietz (Author) , Hoffmann, Georg F. (Author) ,


Get full text
Article (Journal) Online Resource

Saved in:
Show all versions (4)

Similar Items