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Displaying 3 results.
    • Journal article
    Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency
    de Koning, TJ Jaeken, J. Pineda, M Van Maldergem, L. Poll-The, BT van der Knaap, MS (2000) Neuropediatrics : journal of pediatric neurobiology, neurology and neurosurgery — Vol. 31, no. 6, p. 287-292 (2000)
    • Journal article
    Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency - A neurometabolic disorder associated with reduced L-serine biosynthesis
    Klomp, LWJ de Koning, TJ Malingre, HEM van Beurden, EACM Brink, M Opdam, FL Duran, M. Jaeken, J. Pineda, M Van Maldergem, L. Poll-The, BT van den Berg, IET Berger, R. (2000) American Journal of Human Genetics — Vol. 67, no. 6, p. 1389-1399 (2000)
    • Journal article
    Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: Outcome of treatment with amino acids
    De Koning, TJ Duran, M. Van Maldergem, L. Pineda, M Dorland, L Gooskens, R Jaeken, J. Poll-The, BT (2002) Journal of Inherited Metabolic Disease — Vol. 25, no. 2, p. 119-125 (2002)