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Genetic Disorders
Methylmalonic acidemia is a group of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly.
… Methylmalonic acidemia refers to a group of inherited disorders in which … to process certain proteins and fats (lipids) properly. … Methylmalonic acidemia (MMA) refers to a group of inherited disorders in …
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… therapy as a treatment for rare genetic disorders, such as methylmalonic acidemia (MMA), propionic acidemia (PA), and Niemann-Pick … a growth advantage for corrected hepatocytes in mice with methylmalonic acidemia . Hepatology . 2021. Schneller JL, Lee …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… aciduria, argininemia Organic acidemias Propionic acidemia, methylmalonic aciduria, isovaleric acidemia, glutaric acidemia, maple syrup urine disease Fatty …
News Release
The Physician-Scientist Development Program helps physicians develop research programs dedicated to the disorders they specialize in.
… disorders. His expertise lies in a disorder known as methylmalonic academia (MMA), in which the body cannot break …