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Office
111 Michigan Ave Nw
Washington, DC 20010Phone+1 202-884-2187
Summary
- Dr. Mendel Tuchman, MD is a medical geneticist in Washington, District of Columbia. He is currently licensed to practice medicine in District of Columbia, Maryland, and Virginia. He is a Professor at G Washington University School of Medicine & Hlth Sci.
Education & Training
- University of MinnesotaResidency, Pediatrics, 1980 - 1985
- Tel Aviv University SacklerClass of 1979
- University of MinnesotaFellowship, Medical Genetics and Genomics
Certifications & Licensure
- MD State Medical License 2001 - 2025
- VA State Medical License 2001 - 2022
- DC State Medical License 1999 - 2018
- MN State Medical License 1981 - 2014
- American Board of Pediatrics Pediatrics
Clinical Trials
- Longitudinal Study of Urea Cycle Disorders Start of enrollment: 2006 Feb 01
- N-Carbamylglutamate (Carbaglu) In The Treatment Of Hyperammonemia Start of enrollment: 2008 Aug 01
- PCORI Urea Cycle Disorder Study Start of enrollment: 2016 Mar 04
Publications & Presentations
PubMed
- 3 citationsNon-coding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.Johannes Häberle, Marvin B Moore, Nantaporn Haskins, Véronique Rüfenacht, Dariusz Rokicki
Human Mutation. 2021-09-12 - 9 citationsGene delivery corrects N-acetylglutamate synthase deficiency and enables insights in the physiological impact of L-arginine activation of N-acetylglutamate synthaseParthasarathy Sonaimuthu, Emilee Senkevitch, Nantaporn Haskins, Prech Uapinyoying, M McNutt
Scientific Reports. 2021-02-11 - 12 citationsMitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial MembraneNantaporn Haskins, Shivaprasad Bhuvanendran, Claudio Anselmi, Anna Gams, Tomas Kanholm
Frontiers in Physiology. 2021-01-21
Press Mentions
- RECORDATI RARE DISEASES: CARBAGLU® (Carglumic Acid) Tablets 200mg Receives U.S. FDA Approval for a New Indication to Treat Acute Hyperammonemia Associated with Propionic Acidemia and Methylmalonic AcidemiaJanuary 26th, 2021
- $5 Million in Federal Funding to Help Patients with Urea Cycle DisordersOctober 24th, 2019