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Items: 1 to 50 of 91

1.

Case 2: A 2-month-old Girl with Liver Failure and a Brother with Tyrosinemia Type I.

Tal G, Dar DE, Almashanu S, Korman SH, Dumin E.

Pediatr Rev. 2019 Dec;40(12):639-642. doi: 10.1542/pir.2019-0001. No abstract available.

PMID:
31792048
2.

Acute Normoglycemic Ketoacidosis.

Dumin E, Idin A, Korman SH, Tal G.

Clin Chem. 2019 Dec;65(12):1610-1612. doi: 10.1373/clinchem.2019.309062. No abstract available.

PMID:
31776163
3.

Argininemia, Hyperornithinemia, and 3-Hydroxyisovaleric Aciduria.

Tal G, Dar DE, Idin A, Korman SH, Dumin E.

Clin Chem. 2018 Jun;64(6):978-980. doi: 10.1373/clinchem.2018.286617. No abstract available.

4.

Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.

Chien YH, Abdenur JE, Baronio F, Bannick AA, Corrales F, Couce M, Donner MG, Ficicioglu C, Freehauf C, Frithiof D, Gotway G, Hirabayashi K, Hofstede F, Hoganson G, Hwu WL, James P, Kim S, Korman SH, Lachmann R, Levy H, Lindner M, Lykopoulou L, Mayatepek E, Muntau A, Okano Y, Raymond K, Rubio-Gozalbo E, Scholl-Bürgi S, Schulze A, Singh R, Stabler S, Stuy M, Thomas J, Wagner C, Wilson WG, Wortmann S, Yamamoto S, Pao M, Blom HJ.

Orphanet J Rare Dis. 2015 Aug 20;10:99. doi: 10.1186/s13023-015-0321-y. Review.

5.

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.

JAMA Neurol. 2014 Jul 1;71(7):901-4. doi: 10.1001/jamaneurol.2014.116.

PMID:
24797679
6.

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.

J Med Genet. 2013 Apr;50(4):240-5. doi: 10.1136/jmedgenet-2012-101485. Epub 2013 Feb 7.

PMID:
23393310
7.

TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome.

Spiegel R, Khayat M, Shalev SA, Horovitz Y, Mandel H, Hershkovitz E, Barghuti F, Shaag A, Saada A, Korman SH, Elpeleg O, Yatsiv I.

J Med Genet. 2011 Mar;48(3):177-82. doi: 10.1136/jmg.2010.084608. Epub 2010 Dec 8.

PMID:
21147908
8.

Multiple hepatic lesions in a girl with tyrosinemia: not always hepatocellular carcinoma.

Shteyer E, Simanovsky N, Koplewitz B, Korman SH.

J Pediatr. 2011 Mar;158(3):513-513.e1. doi: 10.1016/j.jpeds.2010.08.040. No abstract available.

PMID:
20889162
9.

IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.

Kranendijk M, Struys EA, van Schaftingen E, Gibson KM, Kanhai WA, van der Knaap MS, Amiel J, Buist NR, Das AM, de Klerk JB, Feigenbaum AS, Grange DK, Hofstede FC, Holme E, Kirk EP, Korman SH, Morava E, Morris A, Smeitink J, Sukhai RN, Vallance H, Jakobs C, Salomons GS.

Science. 2010 Oct 15;330(6002):336. doi: 10.1126/science.1192632. Epub 2010 Sep 16.

10.

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.

Mol Genet Metab. 2010 Oct-Nov;101(2-3):228-32. doi: 10.1016/j.ymgme.2010.06.021. Epub 2010 Jul 7.

PMID:
20682460
11.

Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia.

Fernández-Irigoyen J, Santamaría E, Chien YH, Hwu WL, Korman SH, Faghfoury H, Schulze A, Hoganson GE, Stabler SP, Allen RH, Wagner C, Mudd SH, Corrales FJ.

Mol Genet Metab. 2010 Oct-Nov;101(2-3):172-7. doi: 10.1016/j.ymgme.2010.07.009. Epub 2010 Jul 15.

12.

An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.

Steenweg ME, Jakobs C, Errami A, van Dooren SJ, Adeva Bartolomé MT, Aerssens P, Augoustides-Savvapoulou P, Baric I, Baumann M, Bonafé L, Chabrol B, Clarke JT, Clayton P, Coker M, Cooper S, Falik-Zaccai T, Gorman M, Hahn A, Hasanoglu A, King MD, de Klerk HB, Korman SH, Lee C, Meldgaard Lund A, Mejaski-Bosnjak V, Pascual-Castroviejo I, Raadhyaksha A, Rootwelt T, Roubertie A, Ruiz-Falco ML, Scalais E, Schimmel U, Seijo-Martinez M, Suri M, Sykut-Cegielska J, Trefz FK, Uziel G, Valayannopoulos V, Vianey-Saban C, Vlaho S, Vodopiutz J, Wajner M, Walter J, Walter-Derbort C, Yapici Z, Zafeiriou DI, Spreeuwenberg MD, Celli J, den Dunnen JT, van der Knaap MS, Salomons GS.

Hum Mutat. 2010 Apr;31(4):380-90. doi: 10.1002/humu.21197. Review.

PMID:
20052767
13.

Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.

Kranendijk M, Struys EA, Gibson KM, Wickenhagen WV, Abdenur JE, Buechner J, Christensen E, de Kremer RD, Errami A, Gissen P, Gradowska W, Hobson E, Islam L, Korman SH, Kurczynski T, Maranda B, Meli C, Rizzo C, Sansaricq C, Trefz FK, Webster R, Jakobs C, Salomons GS.

Hum Mutat. 2010 Mar;31(3):279-83. doi: 10.1002/humu.21186.

PMID:
20020533
14.

Development and implementation of a novel assay for L-2-hydroxyglutarate dehydrogenase (L-2-HGDH) in cell lysates: L-2-HGDH deficiency in 15 patients with L-2-hydroxyglutaric aciduria.

Kranendijk M, Salomons GS, Gibson KM, Aktuglu-Zeybek C, Bekri S, Christensen E, Clarke J, Hahn A, Korman SH, Mejaski-Bosnjak V, Superti-Furga A, Vianey-Saban C, van der Knaap MS, Jakobs C, Struys EA.

J Inherit Metab Dis. 2009 Dec;32(6):713. doi: 10.1007/s10545-009-1282-x. Epub 2009 Oct 10.

PMID:
19821142
15.

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.

Pediatr Dev Pathol. 2009 Nov-Dec;12(6):481-6. doi: 10.2350/08-10-0548.1.

PMID:
19335026
16.

Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.

Menao S, López-Viñas E, Mir C, Puisac B, Gratacós E, Arnedo M, Carrasco P, Moreno S, Ramos M, Gil MC, Pié A, Ribes A, Pérez-Cerda C, Ugarte M, Clayton PT, Korman SH, Serra D, Asins G, Ramos FJ, Gómez-Puertas P, Hegardt FG, Casals N, Pié J.

Hum Mutat. 2009 Mar;30(3):E520-9. doi: 10.1002/humu.20966.

PMID:
19177531
17.

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.

Am J Hum Genet. 2008 Nov;83(5):643-8. doi: 10.1016/j.ajhg.2008.10.010.

18.

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

Khayat M, Korman SH, Frankel P, Weintraub Z, Hershckowitz S, Sheffer VF, Ben Elisha M, Wevers RA, Falik-Zaccai TC.

Mol Genet Metab. 2008 Aug;94(4):431-4. doi: 10.1016/j.ymgme.2008.04.008. Epub 2008 May 15.

PMID:
18485777
19.

Clinical, ethical and legal considerations in the treatment of newborns with non-ketotic hyperglycinaemia.

Boneh A, Allan S, Mendelson D, Spriggs M, Gillam LH, Korman SH.

Mol Genet Metab. 2008 Jun;94(2):143-7. doi: 10.1016/j.ymgme.2008.02.010. Epub 2008 Apr 18. Review.

PMID:
18395481
20.

The relation of cerebrospinal fluid and plasma glycine levels in propionic acidaemia, a 'ketotic hyperglycinaemia'.

Scholl-Bürgi S, Korman SH, Applegarth DA, Karall D, Lillquist Y, Heinz-Erian P, Davidson AG, Haberlandt E, Sass JO.

J Inherit Metab Dis. 2008 Jun;31(3):395-8. doi: 10.1007/s10545-008-0796-y. Epub 2008 Apr 4.

PMID:
18392751
21.

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.

Mol Genet Metab. 2008 Feb;93(2):179-89. Epub 2007 Dec 3.

PMID:
18054510
22.

Diagnosis of nonketotic hyperglycinemia in patients treated with valproic acid.

Korman SH.

Pediatr Neurol. 2007 Jul;37(1):77. No abstract available.

PMID:
17628231
23.
24.

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.

J Inherit Metab Dis. 2007 Apr;30(2):266. Epub 2007 Feb 15.

PMID:
17372854
25.

HSD17B10 replaces HADH2 as the approved designation for the gene mutated in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency.

Korman SH, Yang SY.

Mol Genet Metab. 2007 May;91(1):115. Epub 2007 Feb 20. No abstract available.

PMID:
17317257
26.

REMOVED: Short-chain acyl-CoA dehydrogenase gene mutation (319 C>T) presents with clinical heterogeneity and is candidate founder mutation in Ashkenazi Jewish population.

Tein I, Elpeleg O, Ben-Zeev B, Korman SH, Lossos A, Lev D, Lerman-Sagie T, Vockley G, Berry GT, Lamhownah AM, Matern D, Roe CR, Gregersen N.

Mol Genet Metab. 2007 Jan 17. [Epub ahead of print]

PMID:
17234443
27.

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.

Eur J Paediatr Neurol. 2007 Mar;11(2):81-9. Epub 2006 Dec 26.

PMID:
17188916
28.

Inborn errors of isoleucine degradation: a review.

Korman SH.

Mol Genet Metab. 2006 Dec;89(4):289-99. Epub 2006 Sep 6. Review.

PMID:
16950638
29.

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.

Mol Genet Metab. 2006 Dec;89(4):332-8. Epub 2006 Aug 17.

PMID:
16919490
30.

TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping.

Maydan G, Andresen BS, Madsen PP, Zeigler M, Raas-Rothschild A, Zlotogorski A, Gutman A, Korman SH.

J Inherit Metab Dis. 2006 Oct;29(5):620-6. Epub 2006 Aug 17.

PMID:
16917729
31.

Rapid diagnosis of glycine encephalopathy by 13C-glycine breath test.

Kure S, Korman SH, Kanno J, Narisawa A, Kubota M, Takayanagi T, Takayanagi M, Saito T, Matsui A, Kamada F, Aoki Y, Ohura T, Matsubara Y.

Ann Neurol. 2006 May;59(5):862-7.

PMID:
16634033
32.

Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation.

Korman SH, Wexler ID, Gutman A, Rolland MO, Kanno J, Kure S.

Ann Neurol. 2006 Feb;59(2):411-5.

PMID:
16404748
33.

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

Korman SH, Waterham HR, Gutman A, Jakobs C, Wanders RJ.

Mol Genet Metab. 2005 Nov;86(3):337-43. Epub 2005 Sep 16.

PMID:
16146704
34.

Mutations in phenotypically mild D-2-hydroxyglutaric aciduria.

Struys EA, Korman SH, Salomons GS, Darmin PS, Achouri Y, van Schaftingen E, Verhoeven NM, Jakobs C.

Ann Neurol. 2005 Oct;58(4):626-30.

PMID:
16037974
35.

Elevated plasma citrulline and arginine due to consumption of Citrullus vulgaris (watermelon).

Mandel H, Levy N, Izkovitch S, Korman SH.

J Inherit Metab Dis. 2005;28(4):467-72.

PMID:
15902549
36.

A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem.

Boneh A, Korman SH, Sato K, Kanno J, Matsubara Y, Lerer I, Ben-Neriah Z, Kure S.

J Hum Genet. 2005;50(5):230-4. Epub 2005 Apr 29.

PMID:
15864413
37.

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.

Neurology. 2005 Apr 26;64(8):1426-30.

PMID:
15851735
38.
39.

Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimester ARG1 mutation analysis.

Korman SH, Gutman A, Stemmer E, Kay BS, Ben-Neriah Z, Zeigler M.

Prenat Diagn. 2004 Nov;24(11):857-60.

PMID:
15565656
40.

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.

Neuropediatrics. 2004 Jun;35(3):151-6.

PMID:
15248096
41.

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.

Ann Neurol. 2004 Jul;56(1):139-43.

PMID:
15236413
42.

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

Korman SH, Gutman A.

J Pediatr Gastroenterol Nutr. 2004 Jul;39(1):95-100. No abstract available.

PMID:
15187789
44.

Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: possible beneficial effect of vitamin therapy.

Hong YS, Korman SH, Lee J, Ghoshal P, Wu Q, Barash V, Kang S, Oh S, Kwon M, Gutman A, Rachmel A, Patel MS.

J Inherit Metab Dis. 2003;26(8):816-8.

PMID:
14765544
45.
46.

Phenotypic variability (heterogeneity) of peroxisomal disorders.

Mandel H, Korman SH.

Adv Exp Med Biol. 2003;544:9-30. Review.

PMID:
14713208
47.

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

Korman SH, Gutman A.

Dev Med Child Neurol. 2002 Oct;44(10):712-20. No abstract available.

48.

Hypocarnitinemia in lysinuric protein intolerance.

Korman SH, Raas-Rothschild A, Elpeleg O, Gutman A.

Mol Genet Metab. 2002 May;76(1):81-3.

PMID:
12175786
49.

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.

Am J Hum Genet. 2002 Apr;70(4):1062-8. Epub 2002 Feb 28.

50.

Phenotype and genotype variation in primary carnitine deficiency.

Wang Y, Korman SH, Ye J, Gargus JJ, Gutman A, Taroni F, Garavaglia B, Longo N.

Genet Med. 2001 Nov-Dec;3(6):387-92.

PMID:
11715001

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