Search Results
Staff
Dr. Manoli is a pediatrician, clinical and biochemical geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI.
… to understand the pathophysiology of metabolic stress in methylmalonic acidemia (MMA). She studied the effects of dietary … a pharmacodynamic measure in upcoming clinical trials on methylmalonic and propionic acidemias. She is the lead … disease progression and therapeutic response in isolated methylmalonic acidemia (MMA) . J Inherit Metab Dis . 2023 …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… aciduria, argininemia Organic acidemias Propionic acidemia, methylmalonic aciduria, isovaleric acidemia, glutaric acidemia, maple syrup urine disease Fatty …
News Release
NHGRI has selected Charles Venditti, M.D., Ph.D., as chief of its Metabolic Medicine Branch within the Institute’s Intramural Research Program. In this role, he will provide leadership and guidance on research into genetic diseases that disrupt metabolism.
… group conducts both clinical and laboratory research on methylmalonic acidemia (MMA), propionic acidemia (PA), and related metabolic disorders. Dr. Venditti …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… genetics education Oleg Shchelochkov, M.D. Propionic acidemia Ellen Sidransky, M.D. Gaucher disease, Lysosomal … diseases program Charles Venditti, M.D., Ph.D. Hereditary methylmalonic acidemias and disorders of intracellular …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… reduced survival, growth retardation, and combined methylmalonic academia and hyperhomocysteinemia. Session #72: … (Acsf3 Deficiency) Displays Neurological Phenotype and Methylmalonic Acidemia. (Molecular Basis of Mendelian Disorders) 2957W. …
Staff
Dr. Galarreta is a board-certified pediatrician and biochemical geneticist in NHGRI's Metabolic Medicine Branch.
… endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA) . Genet Med . 2021;23(11):2233. Dimmock D, …
The Genomics Landscape
In the January 2019 edition of The Genomics Landscape, NHGRI Director Dr. Eric Green honors NIAMS Director, Stephen Katz, M.D., Ph.D.
… Elevated Hormone Flags Liver Problems in Mice with Methylmalonic Acidemia Zooming in on Meiosis Accelerating Cures in the …
News Release
Laura Koehly, Ph.D., has been named chief of NHGRI's Social and Behavioral Research Branch.
… with a significant impact on affected families such as methylmalonic acidemia. "Dr. Koehly brings out the best in individual …
Staff
Dr. Peter McGuire is an investigator in NHGRI's Center for Precision Health Research.
… C. Combined liver-kidney transplant for the management of methylmalonic aciduria: a case report and review of the … screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and … viral capsids in patients with mut methylmalonic acidemia. Hum Gene Ther, 27:345-353. 2016. [ PubMed ] Larsen, …
Staff
Dr. Merideth is a staff clinician in the Office of the Clinical Director and program director for both the NHGRI Medical Biochemical Genetics Fellowship and
NHGRI Clinical Biochemical Genetics Fellowship.
… the gynecologic phenotype in Hermansky-Pudlak syndrome, Methylmalonic Acidemia/Cobalamin disorders/Propionic Acidemia, Chediak-Higashi syndrome and Smith-Lemli-Opitz …