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Benke PJ, Hidalgo RJ, Braffman BH, Jans J, et al. Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges. J Child Neurol 2017;32:543-549.
PMID: 28135894


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