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GUSTAVO MAEGAWA, M.D., PH.D.
M.D., PH.D.
Clinical Biochemical Genetics Physician
NPI: 1366671380IndividualAccepts Medicare
Specialties, Licenses & Credentials
Clinical Genetics (M.D.) Physician
Medical Genetics — Clinical Genetics (M.D.)
Code: 207SG0201X
D69890(MD)ME125350(FL)
Clinical Biochemical Genetics PhysicianPrimary
Medical Genetics — Clinical Biochemical Genetics
Code: 207SG0202X
D69890(MD)ME125350(FL)314126(NY)
Medical Biochemical Genetics
Medical Genetics — Medical Biochemical Genetics
Code: 207SG0207X
314126(NY)
CMS Specialties
PrimaryPEDIATRIC MEDICINE
Education
OTHER
Class of 1999
Research & Publications (15)
Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease.
PMID 19578116·J Biol Chem·2009
8-other
Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis.
PMID 19447653·Mol Genet Metab·2009
3-trial
Intracerebral periventricular pseudocysts in a fetus with mitochondrial depletion syndrome: an association or coincidence.
PMID 19321960·Fetal Diagn Ther·2009
5-case
Identification of pharmacological chaperones for Gaucher disease and characterization of their effects on beta-glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry.
PMID 18972510·Chembiochem·2008
7-preclinical
Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delay.
PMID 18478588·Am J Med Genet A·2008
5-case
Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.
PMID 17237499·J Biol Chem·2007
8-other
The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.
PMID 17015493·Pediatrics·2006
4-observational
Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome?
PMID 16957470·Clin Dysmorphol·2006
5-case
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.
PMID 16648375·J Med Genet·2006
8-other
Focal dermal hypoplasia associated with split sternum--Goltz syndrome.
PMID 15602093·Clin Dysmorphol·2005
5-case
Clinical variability in KBG syndrome: report of three unrelated families.
PMID 15384099·Am J Med Genet A·2004
5-case
Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis.
PMID 12900900·Am J Med Genet A·2003
5-case
Comparative analysis of PCR-deletion detection and immunohistochemistry in Brazilian Duchenne and Becker muscular dystrophy patients.
PMID 11568916·Am J Med Genet·2001
4-observational
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 3959 BROADWAY # CH-7N
NEW YORK, NY 10032 - Phone
- (212) 305-3627
Quick Facts
- NPI
- 1366671380
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Accepted
- Specialties
- 6
- Locations
- 1
- Years in Practice
- 27
- Publications
- 15
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