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Items: 1 to 50 of 129

1.

Site-specific antibody-drug conjugate heterogeneity characterization and heterogeneity root cause analysis.

Cao M, De Mel N, Jiao Y, Howard J, Parthemore C, Korman S, Thompson C, Wendeler M, Liu D.

MAbs. 2019 Aug/Sep;11(6):1064-1076. doi: 10.1080/19420862.2019.1624127. Epub 2019 Jun 14.

PMID:
31198090
2.

Monoclonal Antibody Dimers Induced by Low pH, Heat, or Light Exposure Are Not Immunogenic Upon Subcutaneous Administration in a Mouse Model.

Kijanka G, Bee JS, Schenerman MA, Korman SA, Wu Y, Slütter B, Jiskoot W.

J Pharm Sci. 2019 Apr 25. pii: S0022-3549(19)30254-0. doi: 10.1016/j.xphs.2019.04.021. [Epub ahead of print]

PMID:
31029572
3.

Submicron Size Particles of a Murine Monoclonal Antibody Are More Immunogenic Than Soluble Oligomers or Micron Size Particles Upon Subcutaneous Administration in Mice.

Kijanka G, Bee JS, Korman SA, Wu Y, Roskos LK, Schenerman MA, Slütter B, Jiskoot W.

J Pharm Sci. 2018 Nov;107(11):2847-2859. doi: 10.1016/j.xphs.2018.06.029. Epub 2018 Jul 10.

PMID:
30003898
4.

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.

5.

Biophysical characterization of influenza A virions.

Parupudi A, Gruia F, Korman SA, Dragulin-Otto S, Sra K, Remmele RL Jr, Bee JS.

J Virol Methods. 2017 Sep;247:91-98. doi: 10.1016/j.jviromet.2017.06.002. Epub 2017 Jun 8.

PMID:
28601563
6.

Defibrotide for Treatment of Severe Veno-Occlusive Disease in Pediatrics and Adults: An Exploratory Analysis Using Data from the Center for International Blood and Marrow Transplant Research.

Strouse C, Richardson P, Prentice G, Korman S, Hume R, Nejadnik B, Horowitz MM, Saber W.

Biol Blood Marrow Transplant. 2016 Jul;22(7):1306-1312. doi: 10.1016/j.bbmt.2016.04.011. Epub 2016 Apr 19.

7.

Reduced intensity haplo plus single cord transplant compared to double cord transplant: improved engraftment and graft-versus-host disease-free, relapse-free survival.

van Besien K, Hari P, Zhang MJ, Liu HT, Stock W, Godley L, Odenike O, Larson R, Bishop M, Wickrema A, Gergis U, Mayer S, Shore T, Tsai S, Rhodes J, Cushing MM, Korman S, Artz A.

Haematologica. 2016 May;101(5):634-43. doi: 10.3324/haematol.2015.138594. Epub 2016 Feb 11.

8.

Diversion of aspartate in ASS1-deficient tumours fosters de novo pyrimidine synthesis.

Rabinovich S, Adler L, Yizhak K, Sarver A, Silberman A, Agron S, Stettner N, Sun Q, Brandis A, Helbling D, Korman S, Itzkovitz S, Dimmock D, Ulitsky I, Nagamani SC, Ruppin E, Erez A.

Nature. 2015 Nov 19;527(7578):379-383. doi: 10.1038/nature15529. Epub 2015 Nov 11.

9.

Coherency Sensitive Hashing.

Korman S, Avidan S.

IEEE Trans Pattern Anal Mach Intell. 2016 Jun;38(6):1099-112. doi: 10.1109/TPAMI.2015.2477814. Epub 2015 Sep 10.

PMID:
26372204
10.

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.

11.

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.

JIMD Rep. 2016;26:31-6. doi: 10.1007/8904_2015_474. Epub 2015 Aug 4.

12.

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
13.

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
14.

Adult neurogenesis is associated with the maintenance of a stereotyped, learned motor behavior.

Pytte CL, George S, Korman S, David E, Bogdan D, Kirn JR.

J Neurosci. 2012 May 16;32(20):7052-7. doi: 10.1523/JNEUROSCI.5385-11.2012.

15.

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
16.

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
17.

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.

18.

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
19.

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.

20.

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
21.

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
22.

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
23.

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
24.

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
25.

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.

26.

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
27.

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
28.

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
29.

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
30.

Diagnosis of nonketotic hyperglycinemia in patients treated with valproic acid.

Korman SH.

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

PMID:
17628231
31.
32.

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
33.

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
34.

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
35.

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
36.

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
37.

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
38.

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
39.

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
40.

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
41.

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
42.

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
43.

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
44.

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
45.

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
46.
47.

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
48.

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
49.

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
50.

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

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