S H Korman

Summary

Affiliation: Hadassah University Hospital
Country: Israel

Publications

  1. ncbi request reprint Mutations in phenotypically mild D-2-hydroxyglutaric aciduria
    Eduard A Struys
    Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    Ann Neurol 58:626-30. 2005
  2. ncbi request reprint Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation
    Stanley H Korman
    Department of Clinical Biochemistry, Mt Scopus, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Ann Neurol 59:411-5. 2006
  3. ncbi request reprint A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency
    Stanley H Korman
    Department of Clinical Biochemistry, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Mol Genet Metab 89:332-8. 2006
  4. ncbi request reprint Inborn errors of isoleucine degradation: a review
    Stanley H Korman
    Metabolic Diseases Unit, Hadassah Hebrew University Medical Center, Jerusalem 91120, Israel
    Mol Genet Metab 89:289-99. 2006
  5. ncbi request reprint Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency
    Stanley H Korman
    Department of Clinical Biochemistry, Hadassah Hebrew University Medical Center, P O Box 12000, Jerusalem 91120, Israel
    Mol Genet Metab 86:337-43. 2005
  6. ncbi request reprint Glutaric aciduria type 1: clinical, biochemical and molecular findings in patients from Israel
    Stanley H Korman
    Department of Clinical Biochemistry, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Eur J Paediatr Neurol 11:81-9. 2007
  7. ncbi request reprint 2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation
    Stanley H Korman
    Department of Clinical Biochemistry, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Clin Chem 51:610-7. 2005
  8. ncbi request reprint Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimester ARG1 mutation analysis
    Stanley H Korman
    Department of Clinical Biochemistry, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Prenat Diagn 24:857-60. 2004
  9. ncbi request reprint D-2-hydroxyglutaric aciduria and glutaric aciduria type 1 in siblings: coincidence, or linked disorders?
    S H Korman
    Department of Clinical Biochemistry, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Neuropediatrics 35:151-6. 2004
  10. ncbi request reprint Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation
    Stanley H Korman
    Department of Clinical Biochemistry, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Ann Neurol 56:139-43. 2004

Collaborators

Detail Information

Publications31

  1. ncbi request reprint Mutations in phenotypically mild D-2-hydroxyglutaric aciduria
    Eduard A Struys
    Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    Ann Neurol 58:626-30. 2005
    ..1315A-->G;p.Asn439Asp). Overexpression of this mutant protein showed marked reduction of the enzyme activity...
  2. ncbi request reprint Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation
    Stanley H Korman
    Department of Clinical Biochemistry, Mt Scopus, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Ann Neurol 59:411-5. 2006
    ..To determine whether the devastating outcome of neonatal-onset glycine encephalopathy (NKH) could be improved by instituting treatment immediately at birth rather than after symptoms are already well established...
  3. ncbi request reprint A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency
    Stanley H Korman
    Department of Clinical Biochemistry, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Mol Genet Metab 89:332-8. 2006
    ....
  4. ncbi request reprint Inborn errors of isoleucine degradation: a review
    Stanley H Korman
    Metabolic Diseases Unit, Hadassah Hebrew University Medical Center, Jerusalem 91120, Israel
    Mol Genet Metab 89:289-99. 2006
    ..The ineffectiveness of isoleucine restriction in MHBD deficiency is consistent with the additional roles of this multifunctional enzyme in sex steroid and neurosteroid metabolism and its interaction with amyloid-beta peptide...
  5. ncbi request reprint Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency
    Stanley H Korman
    Department of Clinical Biochemistry, Hadassah Hebrew University Medical Center, P O Box 12000, Jerusalem 91120, Israel
    Mol Genet Metab 86:337-43. 2005
    ..Examination of urine organic acids with awareness of these metabolic findings may lead to improved diagnosis of this seemingly rare disorder...
  6. ncbi request reprint Glutaric aciduria type 1: clinical, biochemical and molecular findings in patients from Israel
    Stanley H Korman
    Department of Clinical Biochemistry, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Eur J Paediatr Neurol 11:81-9. 2007
    ..Greater awareness of glutaric aciduria amongst pediatricians, neonatologists and radiologists is the key to identifying the disorder in the presymptomatic phase and preventing its catastrophic consequences...
  7. ncbi request reprint 2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation
    Stanley H Korman
    Department of Clinical Biochemistry, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Clin Chem 51:610-7. 2005
    ..Excretion of 2-ethylhydracrylic acid (2-EHA), an intermediate formed in the normally minor R-pathway of L-isoleucine oxidation, has not previously been described in SBCADD...
  8. ncbi request reprint Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimester ARG1 mutation analysis
    Stanley H Korman
    Department of Clinical Biochemistry, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Prenat Diagn 24:857-60. 2004
    ..The identification of the ARG1 deletion in this family enabled first-trimester prenatal diagnosis in a subsequent pregnancy by multiplex PCR analysis performed on chorionic villous DNA...
  9. ncbi request reprint D-2-hydroxyglutaric aciduria and glutaric aciduria type 1 in siblings: coincidence, or linked disorders?
    S H Korman
    Department of Clinical Biochemistry, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Neuropediatrics 35:151-6. 2004
    ..However, sequence analysis of the GCDH gene in 8 additional unrelated patients with D-2-HGA and 3 with combined D/ L-2-HGA did not reveal any pathogenic mutations. The biochemical and genetic basis of D-2-HGA remains to be determined...
  10. ncbi request reprint Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation
    Stanley H Korman
    Department of Clinical Biochemistry, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Ann Neurol 56:139-43. 2004
    ..This exceptional outcome may be related to the high residual activity of the mutant protein (32% of wild type) and therapeutic intervention during a critical period of heightened brain exposure and sensitivity to glycine...
  11. ncbi request reprint N-acetyl tyrosyluria caused by parenteral or enteral administration of N-acetyl-L-tyrosine: differentiation from hereditary and acquired tyrosinemias
    Stanley H Korman
    Department of Clinical Biochemistry, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    J Pediatr Gastroenterol Nutr 39:95-100. 2004
  12. ncbi request reprint Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G > C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging from s
    Stanley H Korman
    Department of Clinical Biochemistry, Hadassah Hebrew University Medical Center, Jerusalem 91120, Israel
    Mol Genet Metab 82:121-9. 2004
    ..Interestingly, all family members were 625G > A homozygous. Additional genetic and/or environmental factors must play a major role in determining the phenotypic diversity of MCADD...
  13. ncbi request reprint Pseudo-maple syrup urine disease due to maternal prenatal ingestion of fenugreek
    S H Korman
    Departments of Clinical Biochemistry, Hadassah University Hospital, Jerusalem, Israel
    J Paediatr Child Health 37:403-4. 2001
    ..Ingestion of fenugreek by mothers during labour resulted in a maple syrup-like odour in their newborn infants, leading to a false suspicion of MSUD...
  14. ncbi request reprint Hypocarnitinemia in lysinuric protein intolerance
    Stanley H Korman
    Department of Clinical Biochemistry, Hadassah University Hospital, Jerusalem, Israel
    Mol Genet Metab 76:81-3. 2002
    ..We describe hypocarnitinemia in a 11 year-old male patient with LPI and relate its development to intake, biosynthesis, and uptake of carnitine...
  15. ncbi request reprint Pitfalls in the diagnosis of glycine encephalopathy (non-ketotic hyperglycinemia)
    Stanley H Korman
    Hadassah University Hospital, Jerusalem, Israel
    Dev Med Child Neurol 44:712-20. 2002
  16. ncbi request reprint Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family
    Stanley H Korman
    Department of Clinical Biochemistry, Hadassah Hebrew University Hospital Medical Center, PO Box 12000, Jerusalem 91120, Israel
    J Neurol Sci 218:53-8. 2004
    ..Neurologic and hepatic manifestations are characteristic of some primary mitochondrial disorders. Secondary mitochondrial dysfunction may contribute to the pathogenesis of these same features in HHH syndrome...
  17. ncbi request reprint A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem
    Avihu Boneh
    Department of Human Genetics, Hadassah Hebrew University Medical Centre, Jerusalem, Israel
    J Hum Genet 50:230-4. 2005
    ..A methionine to threonine change in the initiation codon of the glycine decarboxylase gene led to markedly reduced glycine decarboxylase mRNA levels and abolished glycine cleavage system activity...
  18. ncbi request reprint 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
    G Maydan
    Department of Clinical Biochemistry, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    J Inherit Metab Dis 29:620-6. 2006
    ..1249C > T (R417X) exon 12 nonsense mutation (previously reported in a French patient) was identified in both patients from the third kindred, enabling successful prenatal diagnosis of an unaffected fetus using chorionic villous tissue...
  19. doi request reprint l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation
    Simon Edvardson
    Pediatric Neurology Unit, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Mol Genet Metab 101:228-32. 2010
    ..Similarly, there was an apparent improvement in cognitive function, with significantly increased IQ-scores in the sister and marginal improvement in the brother...
  20. ncbi request reprint Sustained oral lysine supplementation in ornithine delta-aminotransferase deficiency
    N Elpeleg
    Metabolic Disease Unit, Shaare Zedek Medical Center, Jerusalem, Israel
    J Inherit Metab Dis 24:423-4. 2001
    ..Oral lysine administration to three patients with B6-nonresponsive gyrate atrophy reduced plasma ornithine concentrations by 21-31% within 1-2 days. No further reduction was noted with time...
  21. pmc Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia
    Simon Edvardson
    Metabolic Disease Unit, Hadassah Hebrew University Medical Center, Jerusalem 91120, Israel
    Am J Hum Genet 83:643-8. 2008
    ..In patients with autosomal-recessive unclassified leukodystrophy or complex spastic paraparesis, sequence analysis of the FA2H gene is warranted...
  22. pmc A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents
    Annick Raas-Rothschild
    Department of Human Genetics, Hadassah University Hospital, Jerusalem 91120, Israel
    Am J Hum Genet 70:1062-8. 2002
    ..Because of considerable overlap between USH and milder PBD phenotypes, individuals suspected to have USH should be screened for peroxisomal dysfunction...
  23. ncbi request reprint Henoch-Schönlein purpura: simultaneous occurrence in two siblings
    F Levy-Khademi
    Department of Pediatrics, Hadassah University Hospital, Mt. Scopus, Jerusalem, Israel
    Pediatr Dermatol 17:139-40. 2000
    ..There was no clear evidence of infection in our patients. The association of the appearance of the disease with the use of the slippers in our patients could indicate a possible, although unlikely, cause for their HSP...
  24. doi request reprint Severe infantile carnitine palmitoyltransferase II deficiency in 19-week fetal sibs
    Karen Meir
    Perinatal Pathology Unit, Department of Pathology, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Pediatr Dev Pathol 12:481-6. 2009
    ..Q413fs) truncating mutation in exon 4. Carnitine palmitoyltransferase type II deficiency should be included in the differential diagnosis in fetuses of Ashkenazi origin with multicystic kidneys and unusual cerebral findings...
  25. doi request reprint PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism
    Morad Khayat
    Institute of Medical Genetics, Western Galilee Hospital, Nahariya, P O Box 21, 22100 Nahariya, Israel
    Mol Genet Metab 94:431-4. 2008
    ..This finding enabled molecular prenatal diagnosis in a subsequent pregnancy, accurate genetic counseling in the large inbred family, and population screening...
  26. ncbi request reprint 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
    Ingrid Tein
    Division of Neurology, Department of Pediatrics, Laboratory Medicine and Pathobiology, Hospital for Sick Children, University of Toronto, Toronto, Canada M5G 1X8
    Mol Genet Metab 93:179-89. 2008
    ..This should be screened for in individuals with multicore myopathy, particularly among the Ashkenazim...
  27. ncbi request reprint Diagnosis of nonketotic hyperglycinemia in patients treated with valproic acid
    Stanley H Korman
    Pediatr Neurol 37:77. 2007
  28. ncbi request reprint A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C
    Avraham Zeharia
    Day Hospitalization Unit, Schneider Children s Medical Center of Israel, Sackler School of Medicine, Tel Aviv University, Petach Tikvah, Israel
    J Hum Genet 52:599-606. 2007
    ..PEX12 is a highly probable candidate gene for direct sequencing in the context of a mild clinical phenotype with mosaicism and minimally abnormal peroxisomal parameters in fibroblasts...
  29. ncbi request reprint Phenotypic variability (heterogeneity) of peroxisomal disorders
    Hanna Mandel
    Metabolic Disease Unit, Department of Pediatrics, Rambam Medical Center, Technion Israel Institute of Technology, Bruce Rappaport Faculty of Medicine, Haifa, Israel
    Adv Exp Med Biol 544:9-30. 2003
    ..The clinical heterogeneity of peroxisomal disorders constitutes a diagnostic challenge demanding a high index of suspicion on the clinician's part...
  30. ncbi request reprint HSD17B10 replaces HADH2 as the approved designation for the gene mutated in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
    Stanley H Korman
    Mol Genet Metab 91:115. 2007
  31. ncbi request reprint Rapid diagnosis of glycine encephalopathy by 13C-glycine breath test
    Shigeo Kure
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Ann Neurol 59:862-7. 2006
    ..Because the glycine cleavage system breaks down glycine generating carbon dioxide, we suppose that the glycine cleavage system activity could be evaluated in vivo by measuring exhaled (13)CO(2) after administration of [1-(13)C]glycine...