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D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity?
van der Knaap MS, Jakobs C, Hoffmann GF, Nyhan WL, Renier WO, Smeitink JA, Catsman-Berrevoets CE, Hjalmarson O, Vallance H, Sugita K, Bowe CM, Herrin JT, Craigen WJ, Buist NR, Brookfield DS, Chalmers RA. van der Knaap MS, et al. Among authors: renier wo. Ann Neurol. 1999 Jan;45(1):111-9. doi: 10.1002/1531-8249(199901)45:1<111::aid-art17>3.0.co;2-n. Ann Neurol. 1999. PMID: 9894884
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.
Willemsen MA, Verbeek MM, Kamsteeg EJ, de Rijk-van Andel JF, Aeby A, Blau N, Burlina A, Donati MA, Geurtz B, Grattan-Smith PJ, Haeussler M, Hoffmann GF, Jung H, de Klerk JB, van der Knaap MS, Kok F, Leuzzi V, de Lonlay P, Megarbane A, Monaghan H, Renier WO, Rondot P, Ryan MM, Seeger J, Smeitink JA, Steenbergen-Spanjers GC, Wassmer E, Weschke B, Wijburg FA, Wilcken B, Zafeiriou DI, Wevers RA. Willemsen MA, et al. Among authors: renier wo. Brain. 2010 Jun;133(Pt 6):1810-22. doi: 10.1093/brain/awq087. Epub 2010 Apr 29. Brain. 2010. PMID: 20430833 Free article.
GM2-gangliosidosis. Clinical and biochemical aspects of four cases.
Praamstra P, Wevers RA, Gabreëls FJ, Rotteveel JJ, Renier WO, Sengers RC, Lamers KJ. Praamstra P, et al. Among authors: renier wo. Clin Neurol Neurosurg. 1990;92(2):143-8. doi: 10.1016/0303-8467(90)90090-r. Clin Neurol Neurosurg. 1990. PMID: 2163796
201 results