Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Katja Sahm"'
Autor:
Nikolas Boy, Chris Mühlhausen, Esther M. Maier, Diana Ballhausen, Matthias R. Baumgartner, Skadi Beblo, Peter Burgard, Kimberly A. Chapman, Dries Dobbelaere, Jana Heringer‐Seifert, Sandra Fleissner, Karina Grohmann‐Held, Gabriele Hahn, Inga Harting, Georg F. Hoffmann, Frank Jochum, Daniela Karall, Vassiliki Konstantopoulous, Michael B. Krawinkel, Martin Lindner, E. M. Charlotte Märtner, Jean‐Marc Nuoffer, Jürgen G. Okun, Barbara Plecko, Roland Posset, Katja Sahm, Sabine Scholl‐Bürgi, Eva Thimm, Magdalena Walter, Monique Williams, Stephan vom Dahl, Athanasia Ziagaki, Johannes Zschocke, Stefan Kölker
Publikováno v:
Journal of Inherited Metabolic Disease, 46(3), 482-519. Springer Netherlands
Glutaric aciduria type 1 is a rare inherited neurometabolic disorder of lysine metabolism caused by pathogenic gene variations in GCDH (cytogenic location: 19p13.13), resulting in deficiency of mitochondrial glutaryl-CoA dehydrogenase (GCDH) and, con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f6ef87fc504ebacfb0b3bcdd096814d
Autor:
Nikolas, Boy, Chris, Mühlhausen, Esther M, Maier, Jana, Heringer, Birgit, Assmann, Peter, Burgard, Marjorie, Dixon, Sandra, Fleissner, Cheryl R, Greenberg, Inga, Harting, Georg F, Hoffmann, Daniela, Karall, David M, Koeller, Michael B, Krawinkel, Jürgen G, Okun, Thomas, Opladen, Roland, Posset, Katja, Sahm, Johannes, Zschocke, Stefan, Kölker, Stephan, Vom Dahl
Publikováno v:
Journal of Inherited Metabolic Disease. 40:75-101
Glutaric aciduria type I (GA-I; synonym, glutaric acidemia type I) is a rare inherited metabolic disease caused by deficiency of glutaryl-CoA dehydrogenase located in the catabolic pathways of L-lysine, L-hydroxylysine, and L-tryptophan. The enzymati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81f74917b0472516903cd8638321fa40
https://doi.org/10.1007/s10545-016-9999-9
https://doi.org/10.1007/s10545-016-9999-9
