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FERNANDO SCAGLIA, MD
MD
Clinical Genetics (M.D.) Physician
NPI: 1518047943IndividualAccepts Medicare
Specialties, Licenses & Credentials
Medical Genetics — Clinical Genetics (M.D.)
Code: 207SG0201X
K4998(TX)
CMS Specialties
PrimaryMEDICAL GENETICS AND GENOMICS
Additional
PEDIATRIC MEDICINE
Education
OTHER
Class of 1989
Research & Publications (20)
Human mitochondrial transfer RNAs: role of pathogenic mutation in disease.
PMID 17999409·Muscle Nerve·2008
6-review
GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.
PMID 18524657·Mol Genet Metab·2008
6-review
Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy.
PMID 17079881·Genet Med·2006
8-other
The mitochondrial myopathy encephalopathy, lactic acidosis with stroke-like episodes (MELAS) syndrome: a review of treatment options.
PMID 16734497·CNS Drugs·2006
6-review
Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency.
PMID 16602094·Am J Med Genet C Semin Med Genet·2006
6-review
Predominant cerebellar volume loss as a neuroradiologic feature of pediatric respiratory chain defects.
PMID 16091512·AJNR Am J Neuroradiol·2005
8-other
Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism.
PMID 15465784·J Nutr·2004
6-review
Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.
PMID 15466086·Pediatrics·2004
8-other
Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients.
PMID 15050979·Mol Genet Metab·2004
8-other
Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis.
PMID 14598342·Am J Med Genet A·2003
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
- 1504 TAUB LOOP
HOUSTON, TX 77030 - Phone
- (713) 873-8890
Quick Facts
- NPI
- 1518047943
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Accepted
- Specialties
- 2
- Locations
- 2
- Years in Practice
- 37
- Publications
- 20
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