SanmatiCuddapahMD
Medical Genetics • Philadelphia, PAClinical Genetics, Pediatric Medical Genetics
Assistant Professor of Clinical Pediatrics, Perelman School of Medicine Attending Physician, Division of Human Genetics, Children's Hospital of Philadelphia
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Office
3401 Civic Center Blvd
Philadelphia, PA 19104Phone+1 215-590-3376- Is this information wrong?
Summary
- Specialize in Metabolism, Williams Syndrome, and Connective Tissue Disorders
Education & Training
University of Alabama Medical CenterResidency, Pediatrics/Medical Genetics and Genomics, 2010 - 2015
Emory University School of MedicineClass of 2010
Certifications & Licensure
PA State Medical License 2015 - 2024
AL State Medical License Active through 2015- American Board of Pediatrics Pediatrics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- 2 citationsBiochemical 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
- 2-Methylglutaconic acid as a biomarker in routine urine organic acids leading to the diagnosis of glutaric acidemia type I in a low excretor.Parith Wongkittichote, Xinying Hong, Stephen R Master, Shagun Kaur, Sanmati R Cuddapah, Miao He> ;Molecular Genetics and Metabolism. 2023 Apr 1
- 2 citationsMalate 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
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Press Mentions
Penn Medicine, Philadelphia: $25 Million Gift Establishes Armellino Center of Excellence for Williams Syndrome at Penn MedicineAugust 8th, 2022
Professional Memberships
- Fellow
- American College of Medical GeneticsMember
- Society of Inherited Metabolic DiseaseMember
Hospital Affiliations
Children's Hospital of PhiladelphiaPhiladelphia, Pennsylvania
Hospital of the University of PennsylvaniaPhiladelphia, Pennsylvania
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