Clinical, biochemical, mitochondrial, and metabolomic aspects of methylmalonate semialdehyde dehydrogenase deficiency: Report of a fifth case
Steven F. Dobrowolski, Ahmad Alodaib, Anuradha Karunanidhi, Shrabini Basu, Meghan Holecko, Uta Lichter‐Konecki, Kirk L. Pappan, Jerry Vockley
Topics & Concepts
ValineInternal medicineAmino acidUrineDehydrogenaseBiochemistryEndocrinologyFailure to thriveCatabolismMetabolismBiologyChemistryMedicineEnzymeMetabolism and Genetic DisordersBiochemical and Molecular ResearchCancer, Hypoxia, and Metabolism