Human hereditary glutathione synthetase deficiency: kinetic properties of mutant enzymes

Patients with hereditary glutathione synthetase deficiency suffer from haemolytic anaemia, 5-oxoprolinuria, metabolic acidosis, recurrent bacterial infections and various degrees of central nervous system dysfunction. To investigate the molecular basis of the mutations associated with this disease,...

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Hlavní autoři: NJåLSSON, Runa, Carlsson, Katarina, Bhansali, Vikas, Luo, Jia-Li, Nilsson, Lennart, Ladenstein, Rudolf, Anderson, Mary, Larsson, Agne, Norgren, Svante
Médium: Artigo
Jazyk:Inglês
Vydáno: Portland Press Ltd. 2004
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1133856/
https://ncbi.nlm.nih.gov/pubmed/15056072
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BJ20040114
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