Korman SH - Search Results

1

l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation.

Edvardson S, Korman SH, Livne A, Shaag A, Saada A, Nalbandian R, Allouche-Arnon H, Gomori JM, Katz-Brull R. Edvardson S, et al. Among authors: korman sh. Mol Genet Metab. 2010 Oct-Nov;101(2-3):228-32. doi: 10.1016/j.ymgme.2010.06.021. Epub 2010 Jul 7. Mol Genet Metab. 2010. PMID: 20682460

2

Hypocarnitinemia in lysinuric protein intolerance.

Korman SH, Raas-Rothschild A, Elpeleg O, Gutman A. Korman SH, et al. Mol Genet Metab. 2002 May;76(1):81-3. doi: 10.1016/s1096-7192(02)00019-7. Mol Genet Metab. 2002. PMID: 12175786

3

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. Mol Genet Metab. 2004 Jun;82(2):121-9. doi: 10.1016/j.ymgme.2004.03.002. Mol Genet Metab. 2004. PMID: 15171999

4

Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation.

Korman SH, Boneh A, Ichinohe A, Kojima K, Sato K, Ergaz Z, Gomori JM, Gutman A, Kure S. Korman SH, et al. Ann Neurol. 2004 Jul;56(1):139-43. doi: 10.1002/ana.20159. Ann Neurol. 2004. PMID: 15236413

5

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. 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

6

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. 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

7

Inborn errors of isoleucine degradation: a review.

Korman SH. Korman SH. Mol Genet Metab. 2006 Dec;89(4):289-99. doi: 10.1016/j.ymgme.2006.07.010. Epub 2006 Sep 6. Mol Genet Metab. 2006. PMID: 16950638 Review.

8

Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation.

Spiegel R, Shaag A, Gutman A, Korman SH, Saada A, Elpeleg O, Shalev SA. Spiegel R, et al. Among authors: korman sh. J Inherit Metab Dis. 2007 Apr;30(2):266. doi: 10.1007/s10545-007-0536-8. Epub 2007 Feb 15. J Inherit Metab Dis. 2007. PMID: 17372854

9

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin.

Tein I, Elpeleg O, Ben-Zeev B, Korman SH, Lossos A, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Vockley J, Berry GT, Lamhonwah AM, Matern D, Roe CR, Gregersen N. Tein I, et al. Among authors: korman sh. Mol Genet Metab. 2008 Feb;93(2):179-89. doi: 10.1016/j.ymgme.2007.09.021. Epub 2007 Dec 3. Mol Genet Metab. 2008. PMID: 18054510

10

PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism.

Khayat M, Korman SH, Frankel P, Weintraub Z, Hershckowitz S, Sheffer VF, Elisha MB, Wevers RA, Falik-Zaccai TC. Khayat M, et al. Among authors: korman sh. Mol Genet Metab. 2008 Aug;94(4):431-434. doi: 10.1016/j.ymgme.2008.04.008. Epub 2008 May 15. Mol Genet Metab. 2008. PMID: 18485777

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