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Gamma-glutamylcysteine synthetase deficiency Disease name and synonyms Gamma-glutamylcysteine synthetase deficiency (OMIM #230450) Glutamate-cysteine ligase deficiency Definition and diagnostic criteria Gamma-glutamylcysteine synthetase deficiency is a very rare autosomal recessive disease characterized by hemolytic anemia, and, in some cases, by neurological symptoms

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Preparation of NEM-derivatized cysteine and GSH internal standards The N-ethylmaleimide (NEM) derivatized isotope labeled [ 13 C 3 , 15 N]-cysteine-NEM and [ 13 C 2 , 15 N]-GSH-NEM were prepared by derivatizing the [ 13 C 3 , 15N]-cysteine and [ 13 C 2 , 15 N]-GSH standards with 50 mM NEM in 10 mM ammonium formate (pH = 7.0) at room temperature (30 min) as previously described 95

Indirect human data: Growth hormone studies show bone and cartilage benefits