242
Views
6
CrossRef citations to date
0
Altmetric
Short Report

Phosphoserine aminotransferase deficiency: imaging findings in a child with congenital microcephaly

ORCID Icon, &
Pages 1033-1035 | Received 09 Mar 2018, Accepted 15 Aug 2018, Published online: 19 Sep 2018

References

  • Coşkun T, Aydın HI, Kılıc M, et al. 3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures. Turk J Pediatr. 2009;51(6):587–592.
  • Hart CE, Race V, Achouri Y, et al. Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway. Am J Hum Genet. 2007;80(5):931–937.
  • Adachi Y, Poduri A, Kawaguch A, et al. Congenital microcephaly with a simplified gyral pattern: associated findings and their significance. Am J Neuroradiol. 2011;32(6):1123–1129.
  • Jaeken J, Detheux M, Van Maldergem L, et al. 3-phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis. Arch Dis Child. 1996;74(6):542–545.
  • de Koning TJ, Klomp LW, van Oppen AC, et al. Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency. Lancet. 2004;364(9452):2221–2222.
  • Jaeken J, Detheux M, Fryns JP, et al. Phosphoserine phosphatase deficiency in a patient with Williams syndrome. J Med Genet. 1997;34(7):594–596.
  • van der Crabben SN, Verhoeven-Duif NM, Brilstra EH, et al. An update on serine deficiency disorders. J Inherit Metab Dis. 2013;36(4):613–619.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.