MendelTuchmanMD

Clinical Biochemical Genetics, Clinical Genetics

Professor, Pediatrics, G Washington University School of Medicine & Hlth

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Dr. Mendel Tuchman, MD is a medical geneticist in Washington, District of Columbia. He is currently licensed to practice medicine in Maryland and Virginia. He is a Professor at G Washington University School of Medicine & Hlth.

PubMed

4 citations
Non-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
10 citations
Gene delivery corrects N-acetylglutamate synthase deficiency and enables insights in the physiological impact of L-arginine activation of N-acetylglutamate synthase
Parthasarathy Sonaimuthu, Emilee Senkevitch, Nantaporn Haskins, Prech Uapinyoying, M McNutt
Scientific Reports. 2021-02-11
13 citations
Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane
Nantaporn Haskins, Shivaprasad Bhuvanendran, Claudio Anselmi, Anna Gams, Tomas Kanholm
Frontiers in Physiology. 2021-01-21

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