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Multiple congenital anomalies in two fetuses with glutathionesynthetase deficit (GSS) Jury 2024 Clinical Genetics Wiley Online Library Pyruvate Dehydrogenase Complex Deficiency: A Review of Treatments and Case Series Glutathione synthetase deficiency MedLink Neurology Loss of function variant of SLC27A3 causes mitochondrial dysfunction and a metabolic neurodevelopmental disorder via impaired fatty acid transport Journal of Human Genetics
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