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Office
3401 Civic Center Blvd
Children's Hospital Of Philadelphia - Neurology
Philadelphia, PA 19104Phone+1 215-590-1719Fax+1 215-590-1771- Is this information wrong?
Summary
- Dr. Xilma Ortiz-Gonzalez is a Child Neurologist in Philadelphia, PA and is affiliated with Children's Hospital of Philadelphia. She received her medical degree from University of Minnesota Medical School and has been in practice 11 years. She also speaks multiple languages, including Spanish and Portuguese. She specializes in neurodevelopmental disabilities and is experienced in child neurology, mitochondrial diseases, neurogenetics, and TBCK encephalopathy.
Clinical Expertise
- Child neurology, Mitochondrial diseases, Neurogenetics, TBCK encephalopathy
Education & Training
University of Pennsylvania Health SystemResidency, Neurology, 2008 - 2011
Children's Hospital of PhiladelphiaFellowship, Child Neurology, 2008 - 2011- Children's Hospital of PhiladelphiaResidency, Pediatrics, 2006 - 2008
University of Minnesota Medical SchoolClass of 2006
Certifications & Licensure
PA State Medical License 2008 - 2024- American Board of Psychiatry and Neurology Neurology with Special Qualification in Child Neurology
Awards, Honors, & Recognition
- Emerging Scholar Award American Neurological Association, 2020
- Carrer Award for Medical Scientists Burroughs Wellcome Fund, 2020
- Kelsey Wright Award for Excellence in Mitochondrial Medicine Mitochondrial Medicine Society, 2017
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Publications & Presentations
PubMed
- 2 citationsExpanding genotype-phenotype correlations in FOXG1 syndrome: results from a patient registry.Elise Brimble, Kathryn G Reyes, Kopika Kuhathaas, Orrin Devinsky, Maura R Z Ruzhnikov, Xilma R Ortiz-Gonzalez, Ingrid Scheffer, Nadia Bahi-Buisson, Heather Olson> ;Orphanet Journal of Rare Diseases. 2023 Jun 12
- 4 citationsPathogenic variants in CASK: Expanding the genotype-phenotype correlations.Holly Dubbs, Xilma Ortiz-Gonzalez, Eric D Marsh> ;American Journal of Medical Genetics. Part A. 2022 Sep 1
- 11 citationsPURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic SpectrumKatrine M Johannesen, Elena Gardella, Cathrine E. Gjerulfsen, Allan Bayat, Rob P.W. Rouhl, Margot R.F. Reijnders, Sandra Whalen, Boris Keren, Julien Buratti, Thomas Co...> ;Neurology. Genetics. 2021 Nov 15
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Press Mentions
- Representing Excellence and Diversity in the Medical Profession: The 2022 AL DÍA Top DoctorsJanuary 17th, 2022
Biomarker, Clues to Possible Therapy Found in Novel Childhood Neurogenetic DiseaseFebruary 22nd, 2018
Professional Memberships
- Member
- Child Neurology SocietyMember
- Mitochondrial Medicine SocietyMember
- American Neurological AssociationMember
Other Languages
- Spanish, Portuguese
Hospital Affiliations
Children's Hospital of PhiladelphiaPhiladelphia, Pennsylvania
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