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1 - 10 of 19
Clinical Research
An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).
… an observational prospective natural history study of metabolism , infection and immunity during the covid19 … and the implications of covid19 in individuals with mitochondrial disease or their family members is unknown.  individuals with mitochondrial disease may be particularly at risk for decline …
FAQ
Addressing the COVID-19 pandemic and what it means to the pediatric mitochondrial disease community.
… children affected by mitochondrial disease have impaired oxidative phosphorylation … are found in nearly all cells of the body, children with mitochondrial disease can have multisystemic problems, … which may lead to disease progression.   … the metabolism , infection and immunity (mini) section’s mission …
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… the metabolism , infection and immunity (mini) study is a … immunity and clinical decline in individuals with mitochondrial disease. mitochondrial diseases are a group of disorders caused by …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
metabolism is a sequence of chemical reactions that take … the generation of energy in our bodies. inborn errors of metabolism (iem) are a group of disorders that causes a block … carbohydrate disorders galactosemia, fructosemia mitochondrial disorders melas, merff, pyruvate dehydrogenase …
Media Availability
TCGA researchers have found that chromophobe renal cell carcinoma stems partly from gene alterations in the mitochondria, the cell's energy supplier.
… increased numbers of mitochondria as well as mutations in mitochondrial dna. this led researchers to discover that …
Clinical Research
The Metabolism, Infection and Immunity (MINI) Section aims to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease.
… the metabolism , infection and immunity (mini) section at the … immunity and clinical decline in individuals with mitochondrial disease. mitochondrial diseases are a group of disorders caused by …
Staff
Dr. Peter McGuire is an investigator in NHGRI's Center for Precision Health Research.
… on improving the care of patients with disorders of mitochondrial metabolism . by combining his training in immunology and … research program to understand the interplay between mitochondrial metabolism and the immune system. his nih …
News Release
A new study highlights how genomic mutations that cause mitochondrial disease may also compromise affected people's immune response.
… … a new study highlights how genomic mutations that cause mitochondrial disease may also compromise affected people's … response. … based on clinical data from patients with mitochondrial disease, the researchers created a mouse model … docs to be researchers, too... the nih mini study: metabolism , infection and immunity in inborn errors of …
Staff
Dr. Charles Venditti is a senior investigator in NHGRI's Center for Precision Health Research.
… the genetics, genomics and biochemistry of organic acid metabolism in model organisms, including roundworms, mice and … of papers that connect disease pathophysiology in mma to mitochondrial dysfunction and prove the efficacy of gene … intermediary metabolism, particularly those that feature mitochondrial localization of the metabolic lesion. in the …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… c.p. (february 2008) disorders of intracellular cobalamin metabolism . genereviews at genetests: medical genetics … seattle, 1997-2008. [ pubmed ] chandler, r. j. et al. mitochondrial dysfunction in mut methylmalonic acidemia.  … with homocystinuria. disorders of intracellular cobalamin metabolism an article published at genereviews.org by david …