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The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.
Gibson KM, Christensen E, Jakobs C, Fowler B, Clarke MA, Hammersen G, Raab K, Kobori J, Moosa A, Vollmer B, Rossier E, Iafolla AK, Matern D, Brouwer OF, Finkelstein J, Aksu F, Weber HP, Bakkeren JA, Gabreels FJ, Bluestone D, Barron TF, Beauvais P, Rabier D, Santos C, Lehnert W, et al. Gibson KM, et al. Among authors: lehnert w. Pediatrics. 1997 Apr;99(4):567-74. doi: 10.1542/peds.99.4.567. Pediatrics. 1997. PMID: 9093300 Free article.
Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection.
Hoffmann GF, Sweetman L, Bremer HJ, Hunneman DH, Hyánek J, Kozich V, Lehnert W, Nyhan WL, Speidel I, Trefz FK, et al. Hoffmann GF, et al. Among authors: lehnert w. Clin Chim Acta. 1991 May 15;198(3):209-27. doi: 10.1016/0009-8981(91)90355-g. Clin Chim Acta. 1991. PMID: 1653652
3-Hydroxy-3-methylglutaryl coenzyme A reductase activity in cultured fibroblasts from patients with mevalonate kinase deficiency: differential response to lipid supplied by fetal bovine serum in tissue culture medium.
Gibson KM, Hoffmann G, Schwall A, Broock RL, Aramaki S, Sweetman L, Nyhan WL, Brandt IK, Wappner RS, Lehnert W, et al. Gibson KM, et al. Among authors: lehnert w. J Lipid Res. 1990 Mar;31(3):515-21. J Lipid Res. 1990. PMID: 2160511 Free article.
3-Methylglutaconic aciduria type I is caused by mutations in AUH.
IJlst L, Loupatty FJ, Ruiter JP, Duran M, Lehnert W, Wanders RJ. IJlst L, et al. Among authors: lehnert w. Am J Hum Genet. 2002 Dec;71(6):1463-6. doi: 10.1086/344712. Epub 2002 Nov 14. Am J Hum Genet. 2002. PMID: 12434311 Free PMC article.
173 results