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Items: 5


Phosphoserine phosphatase (PSPH) gene mutation in an intellectual disability family from Pakistan.

Vincent JB, Jamil T, Rafiq MA, Anwar Z, Ayaz M, Hameed A, Nasr T, Naeem F, Khattak NA, Carter M, Ahmed I, John P, Wiame E, Andrade DM, Schaftingen EV, Mir A, Ayub M.

Clin Genet. 2015 Mar;87(3):296-8. doi: 10.1111/cge.12445. Epub 2014 Jul 30. No abstract available.


Characterization of mammalian sedoheptulokinase and mechanism of formation of erythritol in sedoheptulokinase deficiency.

Kardon T, Stroobant V, Veiga-da-Cunha M, Schaftingen EV.

FEBS Lett. 2008 Oct 15;582(23-24):3330-4. doi: 10.1016/j.febslet.2008.08.024. Epub 2008 Sep 5.


Identification of the gene encoding hydroxyacid-oxoacid transhydrogenase, an enzyme that metabolizes 4-hydroxybutyrate.

Kardon T, Noël G, Vertommen D, Schaftingen EV.

FEBS Lett. 2006 Apr 17;580(9):2347-50.


High frequency of cytolytic T lymphocytes directed against a tumor-specific mutated antigen detectable with HLA tetramers in the blood of a lung carcinoma patient with long survival.

Karanikas V, Colau D, Baurain JF, Chiari R, Thonnard J, Gutierrez-Roelens I, Goffinet C, Van Schaftingen EV, Weynants P, Boon T, Coulie PG.

Cancer Res. 2001 May 1;61(9):3718-24.


Cloning, sequencing and expression of rat liver 3-phosphoglycerate dehydrogenase.

Achouri Y, Rider MH, Schaftingen EV, Robbi M.

Biochem J. 1997 Apr 15;323 ( Pt 2):365-70.

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