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.
… Eirini Manoli, M.D., Ph.D. … Dr Manoli is a pediatrician, clinical and biochemical geneticist … genetics and is a co-inventor of 7 patents. … Dr Manoli’s research combines clinical studies with molecular …
News Release
Researchers recommend more rigorous clinical study of dietary management practices for patients with IEMs, which may result in reformulating some medical foods.
… without immediate treatment." In the MMA study, led by Irini Manoli, M.D., Ph.D., a clinical and biochemical geneticist in … cobalamin C, cblC, Kevin Strauss M.D., Holmes Morton M.D., Irini Manoli M.D. Ph.D. … Researchers recommend more rigorous …
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… families accurate genetic counseling and treatment," said Irini Manoli, M.D., Ph.D., co-lead author and a physician scientist … syndrome, CFZS, MYMK gene, myomaker, Dr. John Carey, Irini Manoli M.D. Ph.D., Moebius Syndrome Research …
News Release
Researchers have discovered that FGF21 is elevated in mice with liver disease that mimics the same condition in patients with methylmalonic acidemia.
… can impair their ability to respond to acute stress," said Irini Manoli, M.D., Ph.D., lead author and associate investigator …
News Release
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
… track oxidation of propionate in a non-invasive way,” said Irini Manoli, M.D., Ph.D., co-author and associate investigator in …
Event
A joint NHGRI-NCATS hosted meeting bringing together researchers, clinicians, families and patient advocates from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare inborn metabolic errors.
… 10:00 - 10:05 a.m. Introduction Session 1 Moderator: Irini Manoli, M.D., Ph.D. Clinical Associate Investigator, NHGRI … - 10:45 a.m. High-Dose B12 Therapy for cblC Deficiency Irini Manoli, M.D., Ph.D. 10:45 - 11:10 a.m. Pathophysiology …
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.
… (Prenatal, Perinatal and Reproductive Genetics) 2274F. Irini Manoli: 1-13C-Propionate Oxidation as a Measure of Hepatic …
Staff
Dr. Charles Venditti is a chief and senior investigator of NHGRI's Metabolic Medicine Branch.
… Hum Gene Ther , 22(4):477-81. 2011. [ PubMed ] Hauser NS, Manoli, I, Graf JC, Sloan J, and Venditti CP. Variable … Nutr , 93(1):47-56. 2011 [ PubMed ] Sloan JL, Johnston JJ, Manoli I, Chandler RJ, Krause K, Carrillo-Carrasco N, … O'Shea CJ, Sloan JL, Wiggs EA, Pao M, Gropman A, Baker EH, Manoli I, Venditti CP, and Snow J. Neurocognitive Phenotype …
File
… |At 2011 -02 -11 14:10:33, [manoli] said: | The video and audio are out of sync +----- … |At 2011 -02 -11 14:11:39, [manoli] said: | @ctls4cancer During the planning meetings, … |At 2011 -02 -11 14:28:17, [manoli] said: | @bsw It's been working continuously here at …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… cblC. J Inherit Metab Dis , 32:728-731. 2009. [ PubMed ] Manoli I, Venditti C.P.: Methylmalonic Acidemia (Sept 2010). … of Washington, Seattle, 1997-2010. [ PubMed ] Hauser N.S., Manoli, I., Graf J.C., Sloan J., and Venditti C.P. Variable … Dis , July 12, 2011. [ PubMed ] Sloan J.L., Johnston J.J., Manoli I., Chandler R.J., Krause K., Carrillo-Carrasco N., …