glutathione synthetase deficiency omim Frontiers Inborn errors in the metabolism
Inborn errors in the metabolism of glutathione Orphanet Journal of Rare Diseases Springer Nature Link Disorder of Glutathione Metabolism Springer Nature Link Multiple congenital anomalies in two fetuses with glutathionesynthetase deficit (GSS) Jury 2024 Clinical Genetics Wiley Online Library Expanding the phenotype of hawkinsinuria: new insights from response to N acetyl L cysteine Journal of Inherited Metabolic Disease Springer Nature Link Full article: Glutathione synthetase deficiency: a novel mutation with femur agenesis
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