Korman SH - Search Results

1

Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia.

Lossos A, Teltsh O, Milman T, Meiner V, Rozen R, Leclerc D, Schwahn BC, Karp N, Rosenblatt DS, Watkins D, Shaag A, Korman SH, Heyman SN, Gal A, Newman JP, Steiner-Birmanns B, Abramsky O, Kohn Y. Lossos A, et al. Among authors: korman sh. JAMA Neurol. 2014 Jul 1;71(7):901-4. doi: 10.1001/jamaneurol.2014.116. JAMA Neurol. 2014. PMID: 24797679

2

Methylenetetrahydrofolate reductase deficiency: importance of early diagnosis.

Fattal-Valevski A, Bassan H, Korman SH, Lerman-Sagie T, Gutman A, Harel S. Fattal-Valevski A, et al. Among authors: korman sh. J Child Neurol. 2000 Aug;15(8):539-43. doi: 10.1177/088307380001500808. J Child Neurol. 2000. PMID: 10961793

3

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

4

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

5

Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.

Edvardson S, Hama H, Shaag A, Gomori JM, Berger I, Soffer D, Korman SH, Taustein I, Saada A, Elpeleg O. Edvardson S, et al. Among authors: korman sh. Am J Hum Genet. 2008 Nov;83(5):643-8. doi: 10.1016/j.ajhg.2008.10.010. Am J Hum Genet. 2008. PMID: 19068277 Free PMC article.

6

Severe infantile carnitine palmitoyltransferase II deficiency in 19-week fetal sibs.

Meir K, Fellig Y, Meiner V, Korman SH, Shaag A, Nadjari M, Soffer D, Ariel I. Meir K, et al. Among authors: korman sh. Pediatr Dev Pathol. 2009 Nov-Dec;12(6):481-6. doi: 10.2350/08-10-0548.1. Pediatr Dev Pathol. 2009. PMID: 19335026

7

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

8

Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter.

Edvardson S, Porcelli V, Jalas C, Soiferman D, Kellner Y, Shaag A, Korman SH, Pierri CL, Scarcia P, Fraenkel ND, Segel R, Schechter A, Frumkin A, Pines O, Saada A, Palmieri L, Elpeleg O. Edvardson S, et al. Among authors: korman sh. J Med Genet. 2013 Apr;50(4):240-5. doi: 10.1136/jmedgenet-2012-101485. Epub 2013 Feb 7. J Med Genet. 2013. PMID: 23393310

9

Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum.

Banne E, Meiner V, Shaag A, Katz-Brull R, Gamliel A, Korman S, Cederboim SH, Duvdevani MP, Frumkin A, Zilkha A, Kapuller V, Arbell D, Cohen E, Eventov-Friedman S. Banne E, et al. Among authors: korman s. JIMD Rep. 2016;26:31-6. doi: 10.1007/8904_2015_474. Epub 2015 Aug 4. JIMD Rep. 2016. PMID: 26238251 Free PMC article.

10

Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation.

Flusser H, Korman SH, Sato K, Matsubara Y, Galil A, Kure S. Flusser H, et al. Among authors: korman sh. Neurology. 2005 Apr 26;64(8):1426-30. doi: 10.1212/01.WNL.0000158475.12907.D6. Neurology. 2005. PMID: 15851735

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