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Replacement of tyrosine 181 by phenylalanine in gentisate 1, 2-dioxygenase I from Pseudomonas alcaligenes NCIMB 9867 enhances catalytic activities

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However, there are several tests that can help to confirm a diagnosis, including: Blood tests to measure levels of glutathione and other markers of liver function Genetic testing to look for mutations in the GSS gene Imaging tests, such as an ultrasound or MRI, to look for liver abnormalities If you suspect that you or a loved one may have glutathione synthetase deficiency, it is important to speak with a genetic counselor or other medical professional who can help guide you through the diagnostic process

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