Search Results - metabolic+disorder

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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

Diagnosis and Prognosis of Fabry Disease by Detecting Neuronal Apoptosis Inhibitor Protein (NAIP) Expression

Fabry disease is a severe metabolic disorder that affects the vascular system of multiple tissues and organs. An estimated 1 in 40,000 individuals inherit this rare disease, and suffer from various complications including stroke, renal failure, and cardiac arrest. At present, molecular markers that directly measure cellular dysfunction to not exist,...

Published: 4/8/2024 | Inventor(s): Raphael Schiffmann

Keywords(s): AA5XXX, AAXXXX, AXXXXX, Fabry Disease, metabolic disorder

Category(s): Collaboration Sought > Licensing

A Mouse Model for Systemic Inflammation in Glucocerebrosidase-Deficient Mice with Minimal Glucosylceramide Storage

Gaucher disease, the most common lysosomal storage disease, is an inherited metabolic disorder in which harmful quantities of the lipid glucocerebroside accumulate in the spleen, liver, lungs, bone marrow and in rare cases in the brain, due to a deficiency of the enzyme glucocerebrosidase (Gba) that catalyses the first step in the biodegradation of...

Published: 4/8/2024 | Inventor(s): Richard Proia

Keywords(s): 3-@hydroxyacyl-coa dehydrogenase deficiency, Gaucher Disease, Glucocerebrosidase deficiency; Gaucher Disease, HAD deficiency, HIS deficiency, Histidinemia, IDXXXX, IXXXXX, metabolic disorder

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