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SHLOMO KORMAN, MD
Pediatrics Physician
NPI: 1497770341Individual
Specialties, Licenses & Credentials
Pediatrics PhysicianPrimary
Pediatrics
Code: 208000000X
ME50184(FL)
Research & Publications (20)
Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.
PMID 19177531·Hum Mutat·2009
8-other
PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism.
PMID 18485777·Mol Genet Metab·2008
7-preclinical
The relation of cerebrospinal fluid and plasma glycine levels in propionic acidaemia, a 'ketotic hyperglycinaemia'.
PMID 18392751·J Inherit Metab Dis·2008
8-other
Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.
PMID 19068277·Am J Hum Genet·2008
8-other
Clinical, ethical and legal considerations in the treatment of newborns with non-ketotic hyperglycinaemia.
PMID 18395481·Mol Genet Metab·2008
6-review
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.
PMID 18054510·Mol Genet Metab·2008
5-case
Diagnosis of nonketotic hyperglycinemia in patients treated with valproic acid.
PMID 17628231·Pediatr Neurol·2007
8-other
REMOVED: Short-chain acyl-CoA dehydrogenase gene mutation (319 C>T) presents with clinical heterogeneity and is candidate founder mutation in Ashkenazi Jewish population.
PMID 17234443·Mol Genet Metab·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
HSD17B10 replaces HADH2 as the approved designation for the gene mutated in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency.
PMID 17317257·Mol Genet Metab·2007
8-other
Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation.
PMID 17372854·J Inherit Metab Dis·2007
5-case
Glutaric aciduria type 1: clinical, biochemical and molecular findings in patients from Israel.
PMID 17188916·Eur J Paediatr Neurol·2007
8-other
Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation.
PMID 16404748·Ann Neurol·2006
5-case
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.
PMID 16917729·J Inherit Metab Dis·2006
8-other
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
Rapid diagnosis of glycine encephalopathy by 13C-glycine breath test.
PMID 16634033·Ann Neurol·2006
5-case
Elevated plasma citrulline and arginine due to consumption of Citrullus vulgaris (watermelon).
PMID 15902549·J Inherit Metab Dis·2005
5-case
Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation.
PMID 15851735·Neurology·2005
5-case
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 4446 E FLETCHER AVE, SUITE A
TAMPA, FL 33613 - Phone
- (813) 971-6700
Quick Facts
- NPI
- 1497770341
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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