glutathione synthetase deficiency genereview

glutathione synthetase deficiency genereview - an overview Loss-of-function variant of SLC27A3 causes

Name: glutathione synthetase deficiency genereview - an overview Loss-of-function variant of SLC27A3 causes
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Loss of function variant of SLC27A3 causes mitochondrial dysfunction and a metabolic neurodevelopmental disorder via impaired fatty acid transport Journal of Human Genetics Glutathione synthetase deficiency MedLink Neurology Glutathione Synthase an overview ScienceDirect Topics Multiple congenital anomalies in two fetuses with glutathionesynthetase deficit (GSS) Jury 2024 Clinical Genetics Wiley Online Library On the horizon: Efforts in urea cycle disorders to better predict severity and develop novel treatment strategies Kirkland A. Wilson, Nicholas Ah Mew, Andrea Gropman, 2025

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Dysregulations in the redox equilibrium induce developmental retardations, organ malformations, teratogenesis, and even embryo lethality (Chen et al., 1999