Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria

Overview of attention for article published in Journal of Inherited Metabolic Disease, December 2012

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mendeley: 7 Mendeley

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So far, Dimensions has found 3 publications that cite this research output.

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Focus on O-phosphohydroxylysine, O-phosphohydroxyproline, N1-phosphotryptophan and S-phosphocysteine

Article in Amino Acids (June 2017)

Novel clinical findings in the first Egyptian case of Sotos syndrome caused by complete deletion of the NSD1 gene

Article in American Journal of Medical Genetics Part A (March 2017)

C7orf10 encodes succinate‐hydroxymethylglutarate CoA‐transferase, the enzyme that converts glutarate to glutaryl‐CoA

Article in Journal of Inherited Metabolic Disease (July 2013)

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