PMC Articles for MedGen (Select 410026) - PMC

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Items: 3

Select item 18527351.

Phosphoserine Aminotransferase Deficiency: A Novel Disorder of the Serine Biosynthesis Pathway

Claire E. Hart, Valerie Race, Younes Achouri, Elsa Wiame, Mark Sharrard, Simon E. Olpin, Jennifer Watkinson, James R. Bonham, Jaak Jaeken, Gert Matthijs, Emile Van Schaftingen

Am J Hum Genet. 2007 May; 80(5): 931–937. Published online 2007 Mar 30. doi: 10.1086/517888

PMCID:: PMC1852735

Article PDF–378K

Select item 83304942.

Adult diagnosis of congenital serine biosynthesis defect: a treatable cause of progressive neuropathy

Sarah Debs, Carlos R. Ferreira, Catherine Groden, H. Jeffrey Kim, Kelly A. King, Monique C. King, Tanya Lehky, Edward W. Cowen, Laura H. Brown, Melissa Merideth, Carter M. Owen, Ellen Macnamara, Camilo Toro, William A. Gahl, Ariane Soldatos

Am J Med Genet A. Author manuscript; available in PMC 2022 Jul 1.

Published in final edited form as: Am J Med Genet A. 2021 Jul; 185(7): 2102–2107. Published online 2021 Jun 4. doi: 10.1002/ajmg.a.62245