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Staff
Dr. Toro is a senior clinician in NHGRI's Office of the Clinical Director and co-director of the NIH Undiagnosed Diseases Program.
… in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases . PLoS Genet . 2011 …
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.
… “Instead of looking at levels, we decided to measure metabolism itself.” Vast fluctuations in metabolic substances … of looking at levels, we decided to measure metabolism itself. One form of MMA is caused by mutations in … in the MMUT protein, which plays a pivotal part in metabolism. The protein is involved in the biological steps …
News Release
Researchers have discovered that FGF21 is elevated in mice with liver disease that mimics the same condition in patients with methylmalonic acidemia.
… similarities in how MMA and these disorders affect energy metabolism and, more specifically, the function of …
The Genomics Landscape
In the August 2023 edition of The Genomics Landscape, NHGRI Director Eric Green introduces incoming NHGRI DEO Director, Jennifer Troyer.
… immune response to viral infections in children with mitochondrial disorders Collection of articles reports …
File
… Vice President, BioReference Laboratories 9.15 - 10.15 am Mitochondrial Disorders Ms. Lynn e Wolfe , CRNP, NHGRI 10.15 …
For Health Professionals
Archives of ISCC-PEG webinars, articles, case studies and more.
… with the National Human Genome Research Institute Title: Mitochondrial DNA mutation A1555G and aminoglycoside-induced …
News Release
The Physician-Scientist Development Program helps physicians develop research programs dedicated to the disorders they specialize in.
… glutaric aciduria type I) known as "inborn errors of metabolism" (IEM). Patients with IEM have an inherited … of a required protein (or proteins) needed to keep their metabolism churning properly. This absence can lead to a …
Staff
Dr. Ayo Doumatey is a Research Fellow and Laboratory Manager at NHGRI's Center for Research on Genomics and Global Health.
Staff
Antwi-Boasiako Oteng is a Research Fellow at the Center for Research on Genomics and Global Health.
… University, Netherlands, and a PhD in Molecular Nutrition, Metabolism and Genomics in 2019 from Wageningen University. … Kersten investigated the regulation of cellular lipid metabolism with a focus on trans fatty acids, as well as the …
Fact Sheets
Deoxyribonucleic acid (DNA) is a molecule that contains the biological instructions that make each species unique.
… the female parent. However, organisms inherit all of their mitochondrial DNA from the female parent. This occurs because …