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Page 1
Phenotype and genotype variation in primary carnitine deficiency.
Wang Y, Korman SH, Ye J, Gargus JJ, Gutman A, Taroni F, Garavaglia B, Longo N. Wang Y, et al. Among authors: gutman a. Genet Med. 2001 Nov-Dec;3(6):387-92. doi: 10.1097/00125817-200111000-00002. Genet Med. 2001. PMID: 11715001 Free article.
A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.
Raas-Rothschild A, Wanders RJ, Mooijer PA, Gootjes J, Waterham HR, Gutman A, Suzuki Y, Shimozawa N, Kondo N, Eshel G, Espeel M, Roels F, Korman SH. Raas-Rothschild A, et al. Among authors: gutman a. Am J Hum Genet. 2002 Apr;70(4):1062-8. doi: 10.1086/339766. Epub 2002 Feb 28. Am J Hum Genet. 2002. PMID: 11873320 Free PMC article.
A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C.
Zeharia A, Ebberink MS, Wanders RJA, Waterham HR, Gutman A, Nissenkorn A, Korman SH. Zeharia A, et al. Among authors: gutman a. J Hum Genet. 2007;52(7):599-606. doi: 10.1007/s10038-007-0157-y. Epub 2007 May 30. J Hum Genet. 2007. PMID: 17534573
Hypocarnitinemia in lysinuric protein intolerance.
Korman SH, Raas-Rothschild A, Elpeleg O, Gutman A. Korman SH, et al. Among authors: gutman a. Mol Genet Metab. 2002 May;76(1):81-3. doi: 10.1016/s1096-7192(02)00019-7. Mol Genet Metab. 2002. PMID: 12175786
Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G > C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging from sudden neonatal death to asymptomatic status.
Korman SH, Gutman A, Brooks R, Sinnathamby T, Gregersen N, Andresen BS. Korman SH, et al. Among authors: gutman a. Mol Genet Metab. 2004 Jun;82(2):121-9. doi: 10.1016/j.ymgme.2004.03.002. Mol Genet Metab. 2004. PMID: 15171999
390 results