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1-2 of 2 results for Neu-Laxova syndrome

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Select article: Neu Laxova Syndrome—A Terrifying Disease in Two Siblings With a Novel Variant in PHGDH Gene

Free access

Case report

First published 2024-3

Neu Laxova Syndrome—A Terrifying Disease in Two Siblings With a Novel Variant in PHGDH Gene

Carolina Ferreira Gonçalves, Alexandra Andrade, Patrícia Silva [...]

Journal of Neonatology

Select article: Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response,Novel Mutations,and Diagnostic Challenges

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Research article

First published 2017-5

Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response,Novel Mutations,and Diagnostic Challenges

Paul J. Benke, Ryan J. Hidalgo, Bruce H. Braffman [...]

Journal of Child Neurology

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