Stanley H. Korman
Department of Clinical Biochemistry
Hadassah-Hebrew University Medical Center
Jerusalem
Israel
Name/email consistency: high
- Glutaric aciduria type 1: clinical, biochemical and molecular findings in patients from Israel. Korman, S.H., Jakobs, C., Darmin, P.S., Gutman, A., van der Knaap, M.S., Ben-Neriah, Z., Dweikat, I., Wexler, I.D., Salomons, G.S. Eur. J. Paediatr. Neurol. (2007)
- A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency. Korman, S.H., Pitt, J.J., Boneh, A., Dweikat, I., Zater, M., Meiner, V., Gutman, A., Brivet, M. Mol. Genet. Metab. (2006)
- Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation. Korman, S.H., Wexler, I.D., Gutman, A., Rolland, M.O., Kanno, J., Kure, S. Ann. Neurol. (2006)
- Inborn errors of isoleucine degradation: a review. Korman, S.H. Mol. Genet. Metab. (2006)
- 2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation. Korman, S.H., Andresen, B.S., Zeharia, A., Gutman, A., Boneh, A., Pitt, J.J. Clin. Chem. (2005)
- Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency. Korman, S.H., Waterham, H.R., Gutman, A., Jakobs, C., Wanders, R.J. Mol. Genet. Metab. (2005)
- Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family. Korman, S.H., Kanazawa, N., Abu-Libdeh, B., Gutman, A., Tsujino, S. J. Neurol. Sci. (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 status. Korman, S.H., Gutman, A., Brooks, R., Sinnathamby, T., Gregersen, N., Andresen, B.S. Mol. Genet. Metab. (2004)
- N-acetyl tyrosyluria caused by parenteral or enteral administration of N-acetyl-L-tyrosine: differentiation from hereditary and acquired tyrosinemias. Korman, S.H., Gutman, A. J. Pediatr. Gastroenterol. Nutr. (2004)
- Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation. Korman, S.H., Boneh, A., Ichinohe, A., Kojima, K., Sato, K., Ergaz, Z., Gomori, J.M., Gutman, A., Kure, S. Ann. Neurol. (2004)
- D-2-hydroxyglutaric aciduria and glutaric aciduria type 1 in siblings: coincidence, or linked disorders?. Korman, S.H., Salomons, G.S., Gutman, A., Brooks, R., Jakobs, C. Neuropediatrics (2004)
- Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimester ARG1 mutation analysis. Korman, S.H., Gutman, A., Stemmer, E., Kay, B.S., Ben-Neriah, Z., Zeigler, M. Prenat. Diagn. (2004)
- Hypocarnitinemia in lysinuric protein intolerance. Korman, S.H., Raas-Rothschild, A., Elpeleg, O., Gutman, A. Mol. Genet. Metab. (2002)
- Pitfalls in the diagnosis of glycine encephalopathy (non-ketotic hyperglycinemia). Korman, S.H., Gutman, A. Dev. Med. Child. Neurol (2002)
- Pseudo-maple syrup urine disease due to maternal prenatal ingestion of fenugreek. Korman, S.H., Cohen, E., Preminger, A. J. Paediatr. Child. Health (2001)
- Characteristic urine organic acid profile in peroxisomal biogenesis disorders. Korman, S.H., Mandel, H., Gutman, A. J. Inherit. Metab. Dis. (2000)
