Gutman A - Search Results

1

2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation.

Korman SH, Andresen BS, Zeharia A, Gutman A, Boneh A, Pitt JJ. Korman SH, et al. Among authors: gutman a. Clin Chem. 2005 Mar;51(3):610-7. doi: 10.1373/clinchem.2004.043265. Epub 2004 Dec 22. Clin Chem. 2005. PMID: 15615815

2

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

3

Pitfalls in the diagnosis of glycine encephalopathy (non-ketotic hyperglycinemia).

Korman SH, Gutman A. Korman SH, et al. Among authors: gutman a. Dev Med Child Neurol. 2002 Oct;44(10):712-20. doi: 10.1017/s0012162201002808. Dev Med Child Neurol. 2002. PMID: 12418798 Free article. No abstract available.

4

Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family.

Korman SH, Kanazawa N, Abu-Libdeh B, Gutman A, Tsujino S. Korman SH, et al. Among authors: gutman a. J Neurol Sci. 2004 Mar 15;218(1-2):53-8. doi: 10.1016/j.jns.2003.10.017. J Neurol Sci. 2004. PMID: 14759633

5

N-acetyl tyrosyluria caused by parenteral or enteral administration of N-acetyl-L-tyrosine: differentiation from hereditary and acquired tyrosinemias.

Korman SH, Gutman A. Korman SH, et al. Among authors: gutman a. J Pediatr Gastroenterol Nutr. 2004 Jul;39(1):95-100. doi: 10.1097/00005176-200407000-00019. J Pediatr Gastroenterol Nutr. 2004. PMID: 15187789 No abstract available.

6

Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency.

Korman SH, Waterham HR, Gutman A, Jakobs C, Wanders RJ. Korman SH, et al. Among authors: gutman a. Mol Genet Metab. 2005 Nov;86(3):337-43. doi: 10.1016/j.ymgme.2005.07.022. Epub 2005 Sep 16. Mol Genet Metab. 2005. PMID: 16146704

7

A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency.

Korman SH, Pitt JJ, Boneh A, Dweikat I, Zater M, Meiner V, Gutman A, Brivet M. Korman SH, et al. Among authors: gutman a. Mol Genet Metab. 2006 Dec;89(4):332-8. doi: 10.1016/j.ymgme.2006.06.009. Epub 2006 Aug 17. Mol Genet Metab. 2006. PMID: 16919490

8

Glutaric aciduria type 1: clinical, biochemical and molecular findings in patients from Israel.

Korman SH, Jakobs C, Darmin PS, Gutman A, van der Knaap MS, Ben-Neriah Z, Dweikat I, Wexler ID, Salomons GS. Korman SH, et al. Among authors: gutman a. Eur J Paediatr Neurol. 2007 Mar;11(2):81-9. doi: 10.1016/j.ejpn.2006.11.006. Epub 2006 Dec 26. Eur J Paediatr Neurol. 2007. PMID: 17188916

9

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

10

D-2-hydroxyglutaric aciduria and glutaric aciduria type 1 in siblings: coincidence, or linked disorders?

Korman SH, Salomons GS, Gutman A, Brooks R, Jakobs C. Korman SH, et al. Among authors: gutman a. Neuropediatrics. 2004 Jun;35(3):151-6. doi: 10.1055/s-2004-817905. Neuropediatrics. 2004. PMID: 15248096

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