Publications by authors named "Stanley H Korman"

42Publications

Clues and challenges in the diagnosis of intermittent maple syrup urine disease.

Eur J Med Genet 2020 Jun 6;63(6):103901. Epub 2020 Mar 6.

Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address:

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June 2020

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

Pediatr Rev 2019 Dec;40(12):639-642

Department of Clinical Biochemistry, Rambam Health Care Campus, Haifa, Israel.

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December 2019

Acute Normoglycemic Ketoacidosis.

Clin Chem 2019 12;65(12):1610-1612

Metabolic Unit, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel.

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December 2019

Argininemia, Hyperornithinemia, and 3-Hydroxyisovaleric Aciduria.

Clin Chem 2018 06;64(6):978-980

Department of Clinical Biochemistry, Rambam Health Care Campus, Haifa, Israel;

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June 2018

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

J Pediatr 2011 Mar;158(3):513-513.e1

Pediatric Gastroenterology Unit, Department of Pediatrics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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March 2011

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

Mol Genet Metab 2010 Oct-Nov;101(2-3):172-7. Epub 2010 Jul 15.

Division of Hepatology and Gene Therapy, Proteomics Unit, Center for Applied Medical Research (CIMA), University of Navarra, 31008 Pamplona, Spain.

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January 2011

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

Pediatr Dev Pathol 2009 Nov-Dec;12(6):481-6

Perinatal Pathology Unit, Department of Pathology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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April 2010

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

Mol Genet Metab 2008 Aug 15;94(4):431-4. Epub 2008 May 15.

Institute of Medical Genetics, Western Galilee Hospital, Nahariya, P.O. Box 21, 22100 Nahariya, Israel.

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August 2008

Glutaric aciduria type 1: clinical, biochemical and molecular findings in patients from Israel.

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

Department of Clinical Biochemistry, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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March 2007

Inborn errors of isoleucine degradation: a review.

Authors:
Stanley H Korman

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

Metabolic Diseases Unit, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.

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December 2006

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

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

Department of Clinical Biochemistry, Mt. Scopus, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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February 2006

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

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

Department of Clinical Biochemistry, Hadassah-Hebrew University Medical Center, P.O. Box 12000, Jerusalem 91120, Israel.

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November 2005

Mutations in phenotypically mild D-2-hydroxyglutaric aciduria.

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

Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

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October 2005

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

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

Department of Clinical Biochemistry, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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July 2004

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

J Pediatr Gastroenterol Nutr 2004 Jul;39(1):95-100

Department of Clinical Biochemistry, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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July 2004

Phenotypic variability (heterogeneity) of peroxisomal disorders.

Adv Exp Med Biol 2003 ;544:9-30

Metabolic Disease Unit, Department of Pediatrics, Rambam Medical Center, Technion-Israel Institute of Technology, Bruce Rappaport Faculty of Medicine, Haifa, Israel.

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July 2004

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

Dev Med Child Neurol 2002 Oct;44(10):712-20

Hadassah University Hospital, Jerusalem, Israel.

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October 2002

Hypocarnitinemia in lysinuric protein intolerance.

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

Department of Clinical Biochemistry, Hadassah University Hospital, Jerusalem, Israel.

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May 2002