Rebecca D Ganetzky, M.D.

faculty photo
Assistant Professor of Pediatrics at the Children's Hospital of Philadelphia
Department: Pediatrics

Contact information
Children's Hospital of Philadelphia
Division of Human Genetics
Room 1002 Abramson Research Bldg.
3615 Civic Center Blvd.
Philadelphia, PA 19104
Office: 267-426-4961
Fax: 215-590-0583
B.A. (Biology and Computer Science, Magna Cum Laude)
Oberlin College, 2005.
M.D. (Special Qualifications in Biomedical Research)
Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, 2010.
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Selected Publications

Murali CN, Soler-Alfonso C, Loomes KM, Shah AA, Monteil D, Padilla CD, Scaglia F, Ganetzky R: TRMU deficiency: a broad clinical spectrum responsive to cysteine supplementation. Molecular Genetics and Metabolism accepted, 2021.

Pritchard, AB & Ganetzky RD: Metabolism. The Philadelphia Guide: Inpatient Pediatrics, 3rd edition. Samir Shah (eds.). MPS Ltd. 2021 Notes: in press.

Barcelos I*, Shadiack E*, Ganetzky RD†, Falk MJ†: Mitochondrial medicine therapies: rationale, evidence, and dosing guidelines Curr Opin Pediatr 32(6): 707-18, Dec 2020.

Sheppard SE, Barrett B, Muraresku C, McKnight, Heather, De Leon DD, Lord K, Ganetzky R: Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas. Am J Med Genet e-published ahead of print, Nov 2020.

Murali CN & Ganetzky RD: Persistent Lactic Acidosis in an 18-month-old Girl Status Post Bone Marrow Transplant. Pediatrics in Review Page: S20-S22, Oct 2020.

Rebecca D. Ganetzky & Stephen R. Master: Machine Learning for the Biochemical Genetics Laboratory. Clin Chem 66(9): 1134-5, Sep 2020.

Brian J Shayota, Taraka R Donti, Jing Xiao, Charul Gijavanekar, Adam D Kennedy, Leroy Hubert, Lance Rodan, Christina Vanderpluym, Catherine Nowak, Hans T Bjornsson, Rebecca Ganetzky, Gerard T Berry, Kirk L Pappan, V Reid Sutton, Qin Sun, Sarah H Elsea: Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway. Mol Genet Metab S1096-7192(20): 30182-7, Aug 2020.

McKenna K, Laskin B, Fitzgerald J, Vatsky S, Ganetzky R, Bustin A, Benz E: Emergency Department and ICU Clinical Pathway for Acute Hyperammonemia in Neonates. CHOP Clinical Pathways Aug 2020.

Hind Alsharhan, Hana Alharbi, Jessica Priestley, Rebecca Ganetzky*, Miao He*: Urinary Uracil: A Useful Marker for Ornithine Transcarbamylase Deficiency in Affected Males Clin Chem 66(7): 988-9, Jul 2020.

Jessica R. C. Priestley, Hana Alharbi, Katharine Press Callahan, Herodes Guzman, Irma Payan-Walters, Ligia Smith, Can Ficicioglu, Rebecca D. Ganetzky† and Rebecca C. Ahrens-Nicklas†: The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening. Int J Neonatal Screen 6(2): 39, May 2020.

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Last updated: 03/10/2021
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