Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Robert Niklas Schmitt"'
Autor:
Mübeccel Demirkol, Christian Staufner, Toshiyuki Fukao, Gülden Gökçay, Sonja Marina Schlatter, Gepke Visser, Mahmut Çoker, Karl Otfried Schwab, Volker Berg, Corinne Gemperle-Britschgi, Terry G J Derks, Vassiliki Konstantopoulou, Mehmet Balci, Jörn Oliver Sass, Amelie S. Lotz-Havla, Sema Kalkan Uçar, Anibh M. Das, Andrea Schlune, Christel Tran, Sarah C. Grünert, G. Christoph Korenke, Robert Niklas Schmitt
Publikováno v:
Molecular Genetics and Metabolism, 122(1-2), 67-75. ACADEMIC PRESS INC ELSEVIER SCIENCE
Molecular Genetics and Metabolism, 122(1-2), 67. Academic Press Inc.
Molecular Genetics and Metabolism, 122(1-2), 67. Academic Press Inc.
2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency, also known as beta-ketothiolase deficiency, is an inborn error of ketone body utilization and isoleucine catabolism. It is caused by mutations in the ACAT1 gene and may present with metabolic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdfc84aac681de0da8ab5d0e00bca976
https://research.rug.nl/en/publications/7c6dda46-746a-4167-9e7e-b6de9a37c932
https://research.rug.nl/en/publications/7c6dda46-746a-4167-9e7e-b6de9a37c932
Autor:
Mehmet Balci, Grant A. Mitchell, Jörn Oliver Sass, Sonja Marina Schlatter, Lenka Mrázová, Mahmut Çoker, Christian Staufner, Corinne Gemperle-Britschgi, Maaike de Vries, Thomas Lücke, Sema Kalkan Uçar, Felix Bischof, Sarah C. Grünert, Amelie S. Lotz-Havla, Andrea Schlune, Anibh M. Das, René Santer, Dominique Roland, Karl Otfried Schwab, Robert Niklas Schmitt, Gülden Gökçay, Mübeccel Demirkol, Johannes Häberle, Frank Rutsch
Publikováno v:
Molecular genetics and metabolism. 121(3)
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is a rare inborn error of ketone body synthesis and leucine degradation, caused by mutations in the HMGCL gene. In order to obtain a comprehensive view on this disease, we have collected
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::046c5caa3e0e8a3ffe9d696dfc6a4a5e
https://pubmed.ncbi.nlm.nih.gov/28583327
https://pubmed.ncbi.nlm.nih.gov/28583327
Publikováno v:
Journal of Nuclear Materials. :1655-1660
Special facilities have been developed for monitoring the irradiation behaviour of the fatigue and fracture properties throughout the development steps of low-activation steels. The paper presents informations on the irradiation devices and testing f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::def33d636f9da0e63df273353099a5b4
https://doi.org/10.1016/0022-3115(94)91108-8
https://doi.org/10.1016/0022-3115(94)91108-8