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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.
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.
Complete deficiency of mitochondrial trifunctional protein due to a novel mutation within the beta-subunit of the mitochondrial trifunctional protein gene leads to failure of long-chain fatty acid beta-oxidation with fatal outcome.
Schwab KO, Ensenauer R, Matern D, Uyanik G, Schnieders B, Wanders RA, Lehnert W. Schwab KO, et al. Among authors: lehnert w. Eur J Pediatr. 2003 Feb;162(2):90-5. doi: 10.1007/s00431-002-1035-4. Epub 2003 Jan 9. Eur J Pediatr. 2003. PMID: 12548384
173 results