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SABINA KORMAN, DMD
DMD
Dentist
NPI: 1467019240Individual
Specialties, Licenses & Credentials
Research & Publications (20)
Glutaric aciduria type 1: clinical, biochemical and molecular findings in patients from Israel.
PMID 17188916·Eur J Paediatr Neurol·2007
8-other
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.
PMID 17534573·J Hum Genet·2007
5-case
A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency.
PMID 16919490·Mol Genet Metab·2006
5-case
Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation.
PMID 16404748·Ann Neurol·2006
5-case
2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation.
PMID 15615815·Clin Chem·2005
8-other
A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem.
PMID 15864413·J Hum Genet·2005
8-other
Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency.
PMID 16146704·Mol Genet Metab·2005
5-case
Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimester ARG1 mutation analysis.
PMID 15565656·Prenat Diagn·2004
5-case
Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family.
PMID 14759633·J Neurol Sci·2004
4-observational
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.
PMID 15171999·Mol Genet Metab·2004
8-other
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
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Contact & Hours
- Address
- 2010 S JUNIPER ST
PHILADELPHIA, PA 19148 - Phone
- (215) 334-3490
Quick Facts
- NPI
- 1467019240
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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