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Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.
Klomp LW, de Koning TJ, Malingré HE, van Beurden EA, Brink M, Opdam FL, Duran M, Jaeken J, Pineda M, Van Maldergem L, Poll-The BT, van den Berg IE, Berger R. Klomp LW, et al. Among authors: jaeken j. Am J Hum Genet. 2000 Dec;67(6):1389-99. doi: 10.1086/316886. Epub 2000 Oct 27. Am J Hum Genet. 2000. PMID: 11055895 Free PMC article.
Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins.
Jaeken J, Artigas J, Barone R, Fiumara A, de Koning TJ, Poll-The BT, de Rijk-van Andel JF, Hoffmann GF, Assmann B, Mayatepek E, Pineda M, Vilaseca MA, Saudubray JM, Schlüter B, Wevers R, Van Schaftingen E. Jaeken J, et al. J Inherit Metab Dis. 1997 Jul;20(3):447-9. doi: 10.1023/a:1005331523477. J Inherit Metab Dis. 1997. PMID: 9266378 Clinical Trial. No abstract available.
3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome.
Pineda M, Vilaseca MA, Artuch R, Santos S, García González MM, Aracil A, Van Schaftingen E, Jaeken J. Pineda M, et al. Among authors: jaeken j. Dev Med Child Neurol. 2000 Sep;42(9):629-33. doi: 10.1017/s0012162200001171. Dev Med Child Neurol. 2000. PMID: 11034457 Free article.
435 results