Search Results - methylmalonic+acidemia

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Mouse Model for Methylmalonic Acidemia, an Inherited Metabolic Disorder

Methylmalonic Acidemia (MMA) is a metabolic disorder affecting 1 in 25,000 to 48,000 individuals globally. MMA is characterized by increased acidity in the blood and tissues due to toxic accumulation of protein and fat by-products resulting in seizures, strokes, and chronic kidney failure. About 60% of MMA cases stem from mutations in the methylmalonyl...

Published: 7/25/2024 | Inventor(s): Eirini (Irini) Manoli, Charles Venditti

Keywords(s): Dysfunction, metabolic disorder, Methylmalonic acidemia, Methylmalonyl-CoA, methylmalonyl-CoA mutase, MITOCHONDRIAL, MMA, Model, Mouse, MUT, RENAL, RXXXXX, TRANSGENIC, transgenic mouse, YAXXXX, YBXXXX, YCXXXX

Category(s): Collaboration Sought > Collaboration, Application > Research Materials

Device and Method for Direct Measurement of Isotopes of Expired Gases: Application in Research of Metabolism and Metabolic Disorders, and in Medical Screening and Diagnostics

The technology offered for licensing and for further development concerns a novel device for intervallic collection of expired gas from subjects and subsequent measurement of the isotopic content of such expired gases. The device is specifically designed for medical research and clinical applications, and in particular in the area of metabolic disorders....

Published: 7/25/2024 | Inventor(s): Randy Chandler, Charles Venditti

Keywords(s): (4)r syndrome, 3-@hydroxyacyl-coa dehydrogenase deficiency, AC3XXX, Acid, Acidemia, isovaleric, ACXXXX, AMINO, AXXXXX, C syndrome, C13CO2, Chamber, Chromosome 4 ring syndrome, Chromosome 6 ring syndrome, Chromosome 7 ring syndrome, CO2, Detection, Direct, FATTY, G syndrome, HAD deficiency, HIS deficiency, Histidinemia, Hypertelorism with esophageal abnormality and hypospadias, Isotope, Isovaleric acidemia, Maple syrup urine disease, Mass, MEASURE, Measureirent, MEASUREMENT, metabolic disorder, Method, Methylmalonic acidemia, Mice, N syndrome, Non-alcoholic steatohepatitis (NASH), ORGANIC, OXIDATION, Patent Category - Mech/Elect/Soft, Phenylketonuria, production, QUANTITATION, R(6) syndrome, R(7) syndrome, RATES, RATIO, respiratory, SPECTROMETRY, SUBSTRATES, Syndrome X, Vivo, W syndrome, W syndrome; Syndrome W

Category(s): Collaboration Sought > Collaboration, Collaboration Sought > Licensing