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Stanley H Korman

Showing results (1-10 of 40) with videos related to

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Molecular Genetics and Metabolism|September 5, 2006
Inborn errors of isoleucine degradation: a reviewStanley H Korman
Advances in Experimental Medicine and Biology|January 10, 2004
Phenotypic variability (heterogeneity) of peroxisomal disordersHanna Mandel, Stanley H Korman
Molecular Genetics and Metabolism|August 15, 2002
Hypocarnitinemia in lysinuric protein intoleranceStanley H Korman, Annick Raas-Rothschild, Orly Elpeleg, et al.
Journal of the Neurological Sciences|February 5, 2004
Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian familyStanley H Korman, Naomi Kanazawa, Bassam Abu-Libdeh, et al.
Molecular Genetics and Metabolism|September 9, 2005
Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiencyStanley H Korman, Hans R Waterham, Alisa Gutman, et al.
Molecular Genetics and Metabolism|June 3, 2004
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 sudden neonatal death to asymptomatic statusStanley H Korman, Alisa Gutman, Rivka Brooks, et al.
Annals of Neurology|January 13, 2006
Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutationStanley H Korman, Isaiah D Wexler, Alisa Gutman, et al.
Prenatal Diagnosis|November 27, 2004
Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimester ARG1 mutation analysisStanley H Korman, Alisa Gutman, Edia Stemmer, et al.
Clinical Chemistry|December 24, 2004
2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidationStanley H Korman, Brage S Andresen, Avraham Zeharia, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|April 2, 2009
Severe infantile carnitine palmitoyltransferase II deficiency in 19-week fetal sibsKaren Meir, Yakov Fellig, Vardiella Meiner, et al.
Pageof 4

Showing results (1-10 of 40) with videos related to

Sort By:
Pageof 4
Molecular Genetics and Metabolism|September 5, 2006
Inborn errors of isoleucine degradation: a reviewStanley H Korman
Advances in Experimental Medicine and Biology|January 10, 2004
Phenotypic variability (heterogeneity) of peroxisomal disordersHanna Mandel, Stanley H Korman
Molecular Genetics and Metabolism|August 15, 2002
Hypocarnitinemia in lysinuric protein intoleranceStanley H Korman, Annick Raas-Rothschild, Orly Elpeleg, et al.
Journal of the Neurological Sciences|February 5, 2004
Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian familyStanley H Korman, Naomi Kanazawa, Bassam Abu-Libdeh, et al.
Molecular Genetics and Metabolism|September 9, 2005
Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiencyStanley H Korman, Hans R Waterham, Alisa Gutman, et al.
Molecular Genetics and Metabolism|June 3, 2004
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 sudden neonatal death to asymptomatic statusStanley H Korman, Alisa Gutman, Rivka Brooks, et al.
Annals of Neurology|January 13, 2006
Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutationStanley H Korman, Isaiah D Wexler, Alisa Gutman, et al.
Prenatal Diagnosis|November 27, 2004
Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimester ARG1 mutation analysisStanley H Korman, Alisa Gutman, Edia Stemmer, et al.
Clinical Chemistry|December 24, 2004
2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidationStanley H Korman, Brage S Andresen, Avraham Zeharia, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|April 2, 2009
Severe infantile carnitine palmitoyltransferase II deficiency in 19-week fetal sibsKaren Meir, Yakov Fellig, Vardiella Meiner, et al.
Pageof 4