RebeccaGanetzkyMD

Physician

Dr. Ganetzky is on Doximity

As a Doximity member you'll join over two million verified healthcare professionals in a private, secure network.

Gain access to free telehealth tools, such as our “call shielding” and one-way patient texting.
Connect with colleagues in the same hospital or clinic.
Read the latest clinical news, personalized to your specialty.

Office
34th St. & Civic Center Blvd
The Children's Hospital Of Philadelphia, Room 9nw55
Philadelphia, PA 19104
Phone+1 215-590-2437

Fax+1 215-590-2768

Children's Hospital of PhiladelphiaFellowship, Clinical Biochemical Genetics, 2015 - 2016
Children's Hospital of PhiladelphiaResidency, Pediatrics/Medical Genetics and Genomics, 2010 - 2015
Case Western Reserve University School of MedicineClass of 2010
Oberlin CollegeB.A., Biology and Computer Science, Magna Cum Laude, 2001 - 2005

PubMed

Biallelic Variants in LIPT2 as a Cause of Infantile-Onset Dystonia: Expanding the Clinical and Molecular Spectrum.
Kuntal Sen, Alonso Zea Vera, Anna Puronurmi, Andrea Gropman, Parith Wongkittichote
Pediatric Neurology. 2025-01-01
A Kinetic Model for Compound Heterozygous Pathogenic Variants in Tyrosyl-tRNA Synthetase Gene YARS2-Associated Neonatal Phenotype.
Thomas Christian, Sunita Maharjan, Sitao Yin, Yuka Yamaki, Isao Masuda
The Journal of Biological Chemistry. 2024-12-13
Executive and adaptive function impacts long-term outcomes for adults with maple syrup urine disease.
Jessica I Gold, Alanna Strong, Nina B Gold, Marc Yudkoff, Dava Szalda
Journal of Inherited Metabolic Disease. 2024-12-10

Books/Book Chapters

Comprehensive Pediatric Hospital Medicine
Chapter: "Hypoglycemia"
Ganetzky REditors: Zaoutis L.McGraw-HillEdition 2nd,2014
Pediatric Primary Care: A Resident Survival Guide
Chapter: "Care of the Complex Child"
Ganetzky R, Jaffe NEditors: Senthil K, Jensen B.Children's Hospital of PhiladelphiaEdition 1st,2014

Abstracts/Posters

"ECHS1 deficiency as a cause of severe neonatal lactic acidosis"
Ganetzky R, Ficicioglu C, Children's Hospital of Philadelphia, Society for Inherited Metabolic Disease Annual Meeting, 1/1/2015

New Mitochondrial Disease Identified in Identical TwinsOctober 13th, 2022
Developmental Delays Related to Leigh Syndrome May Occur Earlier Than Previously KnownMarch 1st, 2022
Gene Behind Long-Recognized Mitochondrial Disease Has Highly Varied EffectsMarch 12th, 2019
Join now to see all