Associated Papers
Clinical and Biochemical Analysis of Glutamate-Cysteine Ligase Deficiency Presented with Late-Onset Spinocerebellar Ataxia and Hemolytic Anemia.
Al-Hatou M et al.
Molecular Syndromology, 2024
Enzymatic defects underlying hereditary glutamate cysteine ligase deficiency are mitigated by association of the catalytic and regulatory subunits.
Willis MN et al.
Biochemistry, 2011
Mechanistic details of glutathione biosynthesis revealed by crystal structures of Saccharomyces cerevisiae glutamate cysteine ligase.
Biterova EI et al.
The Journal of Biological Chemistry, 2009
Chronic non-spherocytic hemolytic anemia associated with severe neurological disease due to gamma-glutamylcysteine synthetase deficiency in a patient of Moroccan origin.
Mañú Pereira M et al.
Haematologica, 2007
The molecular basis of a case of gamma-glutamylcysteine synthetase deficiency.
Beutler E et al.
Blood, 1999
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