glutathione synthetase deficiency genereview - an overview Multiple congenital anomalies in two
Multiple congenital anomalies in two fetuses with glutathionesynthetase deficit (GSS) Jury 2024 Clinical Genetics Wiley Online Library Molybdenum Cofactor Deficiency in Humans Current Understanding of Pathogenic Mechanisms and Disease Models of Citrin Deficiency PMC 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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