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glutathione synthetase deficiency omim Multiple congenital anomalies in two Glutamate dehydrogenase hyperinsulinism: mechanisms, diagnosis, and treatment Orphanet Journal of Rare Diseases Springer Nature Link Multiple congenital anomalies in two fetuses with glutathionesynthetase deficit (GSS) Jury 2024 Clinical Genetics Wiley Online Library PDF) A case of severe glutathione synthetase deficiency with novel GSS mutations Full article: Glutathione synthetase deficiency: a novel mutation with femur agenesis
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