Korman SH - Search Results

1

Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter.

Batzios S, Tal G, DiStasio AT, Peng Y, Charalambous C, Nicolaides P, Kamsteeg EJ, Korman SH, Mandel H, Steinbach PJ, Yi L, Fair SR, Hester ME, Drousiotou A, Kaler SG. Batzios S, et al. Among authors: korman sh. Hum Mol Genet. 2022 Dec 16;31(24):4121-4130. doi: 10.1093/hmg/ddac156. Hum Mol Genet. 2022. PMID: 35913762 Free PMC article.

2

Characteristic urine organic acid profile in peroxisomal biogenesis disorders.

Korman SH, Mandel H, Gutman A. Korman SH, et al. J Inherit Metab Dis. 2000 Jun;23(4):425-8. doi: 10.1023/a:1005624523611. J Inherit Metab Dis. 2000. PMID: 10896310 No abstract available.

3

Phenotypic variability (heterogeneity) of peroxisomal disorders.

Mandel H, Korman SH. Mandel H, et al. Among authors: korman sh. Adv Exp Med Biol. 2003;544:9-30. doi: 10.1007/978-1-4419-9072-3_2. Adv Exp Med Biol. 2003. PMID: 14713208 Review.

4

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

Mandel H, Levy N, Izkovitch S, Korman SH. Mandel H, et al. Among authors: korman sh. J Inherit Metab Dis. 2005;28(4):467-72. doi: 10.1007/s10545-005-0467-1. J Inherit Metab Dis. 2005. PMID: 15902549

5

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

6

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. Spiegel R, et al. Among authors: korman sh. J Med Genet. 2011 Mar;48(3):177-82. doi: 10.1136/jmg.2010.084608. Epub 2010 Dec 8. J Med Genet. 2011. PMID: 21147908

7

Argininemia, Hyperornithinemia, and 3-Hydroxyisovaleric Aciduria.

Tal G, Dar DE, Idin A, Korman SH, Dumin E. Tal G, et al. Among authors: korman sh. Clin Chem. 2018 Jun;64(6):978-980. doi: 10.1373/clinchem.2018.286617. Clin Chem. 2018. PMID: 29844061 No abstract available.

8

Acute Normoglycemic Ketoacidosis.

Dumin E, Idin A, Korman SH, Tal G. Dumin E, et al. Among authors: korman sh. Clin Chem. 2019 Dec;65(12):1610-1612. doi: 10.1373/clinchem.2019.309062. Clin Chem. 2019. PMID: 31776163 No abstract available.

9

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. Tal G, et al. Among authors: korman sh. Pediatr Rev. 2019 Dec;40(12):639-642. doi: 10.1542/pir.2019-0001. Pediatr Rev. 2019. PMID: 31792048 No abstract available.

10

The role of orotic acid measurement in routine newborn screening for urea cycle disorders.

Staretz-Chacham O, Daas S, Ulanovsky I, Blau A, Rostami N, Saraf-Levy T, Abu Salah N, Anikster Y, Banne E, Dar D, Dumin E, Fattal-Valevski A, Falik-Zaccai T, Hershkovitz E, Josefsberg S, Khammash H, Keidar R, Korman SH, Landau Y, Lerman-Sagie T, Mandel D, Mandel H, Marom R, Morag I, Nadir E, Yosha-Orpaz N, Pode-Shakked B, Pras E, Reznik-Wolf H, Saada A, Segel R, Shaag A, Shaul Lotan N, Spiegel R, Tal G, Vaisid T, Zeharia A, Almashanu S. Staretz-Chacham O, et al. Among authors: korman sh. J Inherit Metab Dis. 2021 May;44(3):606-617. doi: 10.1002/jimd.12331. Epub 2020 Nov 30. J Inherit Metab Dis. 2021. PMID: 33190319

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