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ANTONIO FIUMARA, M.D.
M.D.
Neonatal-Perinatal Medicine Physician
NPI: 1821035395Individual
Specialties, Licenses & Credentials
Neonatal-Perinatal Medicine PhysicianPrimary
Pediatrics — Neonatal-Perinatal Medicine
Code: 2080N0001X
036086999(IL)
Research & Publications (20)
Perrault syndrome: evidence for progressive nervous system involvement.
PMID 15216544·Am J Med Genet A·2004
5-case
Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation.
PMID 12971429·J Inherit Metab Dis·2003
5-case
Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies.
PMID 12368991·Neuropediatrics·2002
5-case
A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype.
PMID 19253388·Am J Med Genet A·2009
5-case
Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia.
PMID 18629883·Am J Med Genet A·2008
5-case
Subgaleal hematoma in a child with Sturge-Weber syndrome: to prevent stroke-like episodes, is treatment with aspirin advisable?
PMID 18575872·Childs Nerv Syst·2008
5-case
Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease.
PMID 17672828·Biotechnol Appl Biochem·2008
2-rct
A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region.
PMID 17579360·Hum Mutat·2007
8-other
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling.
PMID 17221873·Hum Mutat·2007
7-preclinical
Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype).
PMID 17186415·J Inherit Metab Dis·2007
5-case
A spectrum of molecular variation in a cohort of Italian families with trimethylaminuria: identification of three novel mutations of the FM03 gene.
PMID 16600650·Mol Genet Metab·2006
8-other
Progressive cavitating leukoencephalopathy: a novel childhood disease.
PMID 16315274·Ann Neurol·2005
8-other
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.
PMID 16037488·Glycobiology·2005
8-other
Association study of autistic disorder and chromosome 16p.
PMID 12749074·Am J Med Genet A·2003
8-other
Mutation analysis of the MECP2 gene in patients with Rett syndrome.
PMID 12567420·Am J Med Genet A·2003
8-other
Rett syndrome phenotype following infantile acute encephalopathy.
PMID 12503649·J Child Neurol·2002
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
- 900 JORIE BLVD, SUITE 186
OAK BROOK, IL 60523 - Phone
- (630) 954-6700
Quick Facts
- NPI
- 1821035395
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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