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Systemic Biomarkers of Brain Injury From Hyperammonemia
Ammonia is a waste product of protein and amino acid catabolism and is also a potent neurotoxin. High blood ammonia levels on the brain can manifest as cytotox…
Urea Cycle DisorderOrganic AcidemiaMaple Syrup Urine Disease+3 more
Children's National Research InstituteNCT04602325
Clinical and Basic Investigations of Methylmalonic Acidemia (MMA) and Related Disorders
Methylmalonic acidemia (MMA), one of the most common inborn errors of organic acid metabolism, is heterogeneous in etiology and clinical manifestations. Affect…
Organic AcidemiaMethylmalonic AcidemiaInborn Errors of Metabolism
National Human Genome Research Institute (NHGRI)NCT00078078
The Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia
Background: People s bodies need to break down food into the chemicals. These chemicals are used for energy and growth. Some people cannot process all chemica…
Metabolic DiseasePropionic AcidemiaOrganic Acidemia
National Human Genome Research Institute (NHGRI)NCT02890342