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Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele.
Gregersen N, Winter V, Lyonnet S, Saudubray JM, Wendel U, Jensen TG, Andresen BS, Kølvraa S, Lehnert W, Bolund L, et al. Gregersen N, et al. Among authors: lehnert w. J Inherit Metab Dis. 1994;17(2):169-84. doi: 10.1007/BF00711614. J Inherit Metab Dis. 1994. PMID: 7967471
Clinical and neurocognitive outcome in symptomatic isovaleric acidemia.
Grünert SC, Wendel U, Lindner M, Leichsenring M, Schwab KO, Vockley J, Lehnert W, Ensenauer R. Grünert SC, et al. Among authors: lehnert w. Orphanet J Rare Dis. 2012 Jan 25;7:9. doi: 10.1186/1750-1172-7-9. Orphanet J Rare Dis. 2012. PMID: 22277694 Free PMC article.
175 results