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Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.
Merinero B, Pérez B, Pérez-Cerdá C, Rincón A, Desviat LR, Martínez MA, Sala PR, García MJ, Aldamiz-Echevarría L, Campos J, Cornejo V, Del Toro M, Mahfoud A, Martínez-Pardo M, Parini R, Pedrón C, Peña-Quintana L, Pérez M, Pourfarzam M, Ugarte M. Merinero B, et al. Among authors: pourfarzam m. J Inherit Metab Dis. 2008 Feb;31(1):55-66. doi: 10.1007/s10545-007-0667-y. Epub 2007 Oct 22. J Inherit Metab Dis. 2008. PMID: 17957493
Tandem mass spectrometry--the potential.
Bartlett K, Pourfarzam M. Bartlett K, et al. Among authors: pourfarzam m. J Inherit Metab Dis. 1999 Jun;22(4):568-71. doi: 10.1023/a:1005520726774. J Inherit Metab Dis. 1999. PMID: 10407788 Review.
Acylcarnitine analysis in the investigation of myopathy.
Moore SJ, Haites NE, Broom I, White I, Coleman RJ, Pourfarzam M, Morris AA. Moore SJ, et al. Among authors: pourfarzam m. J Inherit Metab Dis. 1998 Jun;21(4):427-8. doi: 10.1023/a:1005319011531. J Inherit Metab Dis. 1998. PMID: 9700602 No abstract available.
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
Andresen BS, Olpin S, Poorthuis BJ, Scholte HR, Vianey-Saban C, Wanders R, Ijlst L, Morris A, Pourfarzam M, Bartlett K, Baumgartner ER, deKlerk JB, Schroeder LD, Corydon TJ, Lund H, Winter V, Bross P, Bolund L, Gregersen N. Andresen BS, et al. Among authors: pourfarzam m. Am J Hum Genet. 1999 Feb;64(2):479-94. doi: 10.1086/302261. Am J Hum Genet. 1999. PMID: 9973285 Free PMC article.
85 results