Dr. Gustavo Henrique boff Maegawa M.D., PH.D.
Geneticist | Clinical Biochemical Genetics
Johns Hopkins Hospital 600 N Wolfe St. Blal Baltimore MD, 21287About
Dr. Gustavo Maegawa practices Genetic Medicine in Baltimore, MD. As a geneticist, Dr. Maegawa performs experiments and analyzes data to interpret the inheritance of different traits in patients. A geneticist evaluates, diagnoses, and manages patients? with hereditary conditions or congenital malformations, genetic risk calculations, and mutation analysis. Dr. Maegawa carries out studies, tests, and counsels patients with genetic diseases.
Education and Training
Universidad Federal Do Parana Caixa Postal 2000
Universidad Federal Do Parana Caixa Postal 2000
Board Certification
Medical GeneticsAmerican Board of Medical GeneticsABMG
Provider Details
Expert Publications
Data provided by the National Library of Medicine- [True neurogenic outlet syndrome: report of 2 cases].
- Comparative analysis of PCR-deletion detection and immunohistochemistry in Brazilian Duchenne and Becker muscular dystrophy patients.
- Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis.
- Impaired P50 sensory gating in Machado-Joseph disease.
- Clinical variability in KBG syndrome: report of three unrelated families.
- Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.
- Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome?
- The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.
- Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.
- Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delay.
- Isofagomine induced stabilization of glucocerebrosidase.
- Identification of pharmacological chaperones for Gaucher disease and
- Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease.
- Novel patient cell-based HTS assay for identification of small molecules for a lysosomal storage disease.
- Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency.
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