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Staff
Dr. Charles Venditti is a chief and senior investigator of NHGRI's Metabolic Medicine Branch.
… history and clinical phenotype(s) of the hereditary methylmalonic acidemias (MMA) and cobalamin metabolic … prove the efficacy of gene therapy as a treatment for both methylmalonic acidemia and propionic acidemia. In 2009, he was the …
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… therapy as a treatment for rare genetic disorders, such as methylmalonic acidemia (MMA), propionic acidemia (PA), and Niemann-Pick … a growth advantage for corrected hepatocytes in mice with methylmalonic acidemia . Hepatology . 2021. Schneller JL, Lee …
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 …
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, …
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 …
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… mutations in ACSF3 as the cause of combined malonic and methylmalonic aciduria. Nat Genet , 43:883-886. 2011. [ …
Staff
Dr. Laura Koehly is the chief of and senior investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.​
… O, Cleary J, Koehly LM. Dietary management of Propionic Acidemia: family caregiver perspectives and practices . …