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Serum Protein Biomarkers that Predict the Response to Liver Directed Therapy in Methymalonic Acidemia (MMA) and Propionic Acidemia (PA)
Isolated Methylmalonic Acidemia (MMA) comprises a relatively common and heterogeneous group of inborn errors of metabolism. The most common cause of isolated MMA is genetic deficiency of the enzyme methylmalonyl-coA mutase (MUT), which, unfortunately for the affected patients, is also the most clinically severe. NHGRI scientist have discovered biomarkers...
Published: 10/28/2024   |   Inventor(s): Eirini (Irini) Manoli, Charles Venditti
Keywords(s): Acidemia, Biomarkers, Directed, liver, Methymalonic, MMA, PREDICT, Protein, RESPONSE, SERUM, That, THERAPY, VPXXXX, WBXXXX, WIXXXX, XCXXXX, XEXXXX
Category(s): Application > Diagnostics, TherapeuticArea > Ophthalmology, Application > Research Materials, TherapeuticArea > Cardiology, TherapeuticArea > Oncology, TherapeuticArea > Dental, TherapeuticArea > Endocrinology, Application > Therapeutics, TherapeuticArea > Infectious Disease
Non-invasive Isotopic Biomarkers that Predict the Response to Liver Directed Therapy in Methymalonic Acidemia (MMA) and Propionic Acidemia (PA)
Isolated Methylmalonic Acidemia (MMA) comprises a relatively common and heterogeneous group of inborn errors of metabolism. The most common cause of isolated MMA is genetic deficiency of the enzyme methylmalonyl-coA mutase (MUT), which, unfortunately for the affected patients, is also the most clinically severe. NHGRI scientist have invented a series...
Published: 10/28/2024   |   Inventor(s): Eirini (Irini) Manoli, Charles Venditti
Keywords(s): Acidemia, Biomarkers, Directed, ISOTOPIC, liver, Methymalonic, MMA, NON-INVASIVE, PREDICT, RESPONSE, That, THERAPY, VPXXXX, WFXXXX, WIXXXX, XCXXXX
Category(s): Application > Occupational Safety and Health, Application > Research Materials, Application > Diagnostics, TherapeuticArea > Dental, TherapeuticArea > Cardiology, TherapeuticArea > Infectious Disease, TherapeuticArea > Endocrinology, Application > Consumer Products, TherapeuticArea > Ophthalmology, TherapeuticArea > Oncology