RebeccaGanetzkyMD

PubMed

• 1 citations
  Development and validation of a multiplexed LC-MS/MS ketone body assay for clinical diagnostics.
  Kemperman, R., Master, S., Ganetzky, R.> ;Journal of Mass Spectrometry and Advances in the Clinical Lab. 2024 Jan 1
• Liver Transplantation in a Woman with Mahvash Disease.
  Justin Robbins, Dina Halegoua-DeMarzio, Atrayee Basu Mallick, Namrata Vijayvergia, Rebecca Ganetzky, Harish Lavu, Veda N Giri, Jeffrey Miller, Warren Maley, Ashesh P S...> ;The New England Journal of Medicine. 2023 Nov 23
• 1 citations
  Optimized Nutrition in Mitochondrial Disease Correlates to Improved Muscle Fatigue, Strength, and Quality of Life.
  Donna DiVito, Amanda Wellik, Jessica Burfield, James Peterson, Jean Flickinger, Alyssa Tindall, Kimberly Albanowski, Shailee Vishnubhatt, Laura MacMullen, Isaac Martin...> ;Neurotherapeutics. 2023 Oct 1
• 2 citations
  Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency.
  Parith Wongkittichote, Sanmati R Cuddapah, Stephen R Master, Dorothy K Grange, Dennis Dietzen, Stephen M Roper, Rebecca D Ganetzky> ;JIMD Reports. 2023 Sep 1
• 1 citations
  Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development.
  Kosuke Izumi, Rebecca D Ganetzky, Gerald B W Wertheim, Cara M Skraban, Emma C Bedoukian, Alisha Wilkens, Christopher Fincher, Nina H Thomas, Jill P Ginsberg, Susan R R...> ;Molecular Syndromology. 2023 Aug 1
• Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
  Vandana Shashi, Kelly Schoch, Rebecca Ganetzky, Peter G Kranz, Neal Sondheimer, M Louise Markert, Heidi Cope, Azita Sadeghpour, Philip Roehrs, Thomas Arbogast, Colleen...> ;Genetics in Medicine. 2023 Sep 1
• 10 citations
  Perspectives of Rare Disease Experts on Newborn Genome Sequencing.
  Nina B Gold, Sophia M Adelson, Nidhi Shah, Shardae Williams, Sarah L Bick, Emilie S Zoltick, Jessica I Gold, Alanna Strong, Rebecca Ganetzky, Amy E Roberts, Melissa Wa...> ;JAMA Network Open. 2023 May 1
• 3 citations
  Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, an...
  Ella F Whittle, Madison Chilian, Ehsan Ghayoor Karimiani, Helga Progri, Daniela Buhas, Melis Kose, Rebecca D Ganetzky, Mehran Beiraghi Toosi, Paria Najarzadeh Torbati,...> ;Genetics in Medicine. 2023 Feb 1
• Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia.
  Jennifer L Harmon, Kimberly A Chapman, Louise Pyle, Heather McKnight, Diva D De Leon, Nadia Merchant, Guzman, H., Yazdani, S., Vitola, B., Sigal, W., Lord, K., Ganetzk...> ;Frontiers in Endocrinology. 2023 Jan 1
• 2 citations
  Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature.
  Jessica R C Priestley, Lisa M Pace, Kuntal Sen, Anjali Aggarwal, Cesar Augusto P F Alves, Ian M Campbell, Sanmati R Cuddapah, Nicole M Engelhardt, Marina Eskandar, Pal...> ;Molecular Genetics and Metabolism Reports. 2022 Dec 1
• 2 citations
  Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mito...
  Johanna Elander, Elizabeth M McCormick, Maria Värendh, Karin Stenfeldt, Rebecca D Ganetzky, Amy Goldstein, Zarazuela Zolkipli-Cunningham, Laura E MacMullen, Rui Xiao, ...> ;Molecular Genetics and Metabolism. 2022 Nov 1
• 6 citations
  Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
  Georg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, Lea D Schlieben, Holger Prokisch, René G Feichtinger, Johannes A Mayr, Heiko Brennenstuhl, Julian Schröter, Agnes ...> ;Genetics in Medicine. 2023 Jun 1
• 6 citations
  Congenital Hypermetabolism and Uncoupled Oxidative Phosphorylation.
  Rebecca D Ganetzky, Andrew L Markhard, Irene Yee, Sheila Clever, Alan Cahill, Hardik Shah, Zenon Grabarek, Tsz-Leung To, Vamsi K Mootha> ;The New England Journal of Medicine. 2022 Oct 13
• 1 citations
  Congenital adrenal calcifications as the first clinical indication of sphingosine lyase insufficiency syndrome: A case report and review of the literature.
  Hayley A Ron, Rebecca Scobell, Amy Strong, Elizabeth G Salazar, Rebecca Ganetzky> ;American Journal of Medical Genetics. Part A. 2022 Nov 1
• 4 citations
  Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care.
  Katherine M Szigety, Terrence B Crowley, Kimberly B Gaiser, Erin Y Chen, Jessica R C Priestley, Lydia S Williams, Sneha A Rangu, Christina M Wright, Priyanka Adusumall...> ;Pediatrics. 2022 Jul 1
• A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.
  Mythily Ganapathi, Gaelle Friocourt, Naig Gueguen, Marisa W Friederich, Gerald Le Gac, Volkan Okur, Nadège Loaëc, Thomas Ludwig, Chandran Ka, Kurenai Tanji, Pascale Ma...> ;Journal of Inherited Metabolic Disease. 2022 Sep 1
• 2 citations
  Early developmental delay in Leigh syndrome spectrum disorders is associated with poor clinical prognosis.
  Marni J Falk, Amy Goldstein, Ibrahim George-Sankoh, Rui Xiao, Laura Adang, Rebecca Ganetzky, Rory J Tinker> ;Molecular Genetics and Metabolism. 2022 Apr 1
• 1 citations
  Contraceptive use in women with inherited metabolic disorders: a retrospective study and literature review.
  Jessica I Gold, Nina B Gold, Diva D DeLeon, Rebecca Ganetzky> ;Orphanet Journal of Rare Diseases. 2022 Feb 8
• 5 citations
  Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease.
  Jing Wang, Jorune Balciuniene, Maria Alejandra Diaz-Miranda, Elizabeth M McCormick, Erfan Aref-Eshghi, Alison M Muir, Kajia Cao, Juliana Troiani, Alicia Moseley, Zhiqi...> ;Molecular Genetics and Metabolism. 2022 Jan 1
• Normal Biomarkers in an Acute Presentation in a Known Case of Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.
  Hana Alharbi, Michael J. Bennett, Miao He, Stephen R. Master, Rebecca D. Ganetzky> ;Clinical Chemistry. 2021 Nov 26
• 8 citations
  Pediatric single large-scale mtDNA deletion syndromes: The power of patient reported outcomes.
  Elizabeth Reynolds, Matthew Byrne, Rebecca D. Ganetzky, Sumit Parikh> ;Molecular Genetics and Metabolism. 2021 Nov 14
• 4 citations
  Mitochondrial Hepatopathies.
  Hana Alharbi, Jessica R C Priestley, Benjamin J Wilkins, Rebecca D Ganetzky> ;Clinical Liver Disease. 2021 Nov 1
• 6 citations
  Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans
  Cai Qi, Irena Feng, Ana Costa, Rita Pinto-Costa, Jennifer E. Neil, Oana Caluseriu, Dong Li, Rebecca D. Ganetzky, Charlotte Brasch-Andersen, Christina Fagerberg, Lars K...> ;Genetics in Medicine. 2021 Nov 1
• 4 citations
  Development of a Mitochondrial Myopathy-Composite Assessment Tool.
  Jean Flickinger, Jiaxin Fan, Amanda Wellik, Rebecca Ganetzky, Amy Goldstein, Colleen C Muraresku, Allan M Glanzman, Elizabeth Ballance, Kristin Leonhardt, Elizabeth M ...> ;JCSM Clinical Reports. 2021 Oct 1
• Hepatic Manifestations of Mendelian Disorders of Cholesterol Biosynthesis and Cellular Metabolism
  Alanna Strong, Rebecca D. Ganetzky, Daniel J. Rader> ;Clinical Liver Disease. 2021 Aug 27
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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