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Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency.
J Inherit Metab Dis. 2011 Feb;34(1):181-4. doi: 10.1007/s10545-010-9249-5. Epub 2010 Nov 27.
J Inherit Metab Dis. 2011.
PMID: 21113737
Free PMC article.
Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.
Tabatabaie L, de Koning TJ, Geboers AJ, van den Berg IE, Berger R, Klomp LW.
Tabatabaie L, et al.
Hum Mutat. 2009 May;30(5):749-56. doi: 10.1002/humu.20934.
Hum Mutat. 2009.
PMID: 19235232
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L-serine synthesis in the central nervous system: a review on serine deficiency disorders.
Tabatabaie L, Klomp LW, Berger R, de Koning TJ.
Tabatabaie L, et al.
Mol Genet Metab. 2010 Mar;99(3):256-62. doi: 10.1016/j.ymgme.2009.10.012. Epub 2009 Oct 25.
Mol Genet Metab. 2010.
PMID: 19963421
Review.
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