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Searching for mutations in the arylsulphatase A gene.
Salamon MB, Christensen E, Schwartz M. Salamon MB, et al. Among authors: christensen e. J Inherit Metab Dis. 1994;17(3):311-4. doi: 10.1007/BF00711816. J Inherit Metab Dis. 1994. PMID: 7807940 No abstract available.
Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase.
Christensen M, Duno M, Lund AM, Skovby F, Christensen E. Christensen M, et al. Among authors: christensen e. J Inherit Metab Dis. 2007 Apr;30(2):248-55. doi: 10.1007/s10545-007-0396-2. Epub 2007 Mar 1. J Inherit Metab Dis. 2007. PMID: 17334708
Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency.
Ostergaard E, Moller LB, Kalkanoglu-Sivri HS, Dursun A, Kibaek M, Thelle T, Christensen E, Duno M, Wibrand F. Ostergaard E, et al. Among authors: christensen e. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S235-9. doi: 10.1007/s10545-009-1179-8. Epub 2009 Jun 11. J Inherit Metab Dis. 2009. PMID: 19517265
1,488 results