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- Metabolomics/Analytical Methods/Mass Spectrometry/Tandem-MS
'''Maple syrup urine disease (MSUD)''' – also called branched-chain ketoaciduria, is an autosomal recessive metabolic disorder affecting... - 83 - eponyms in medicine - (501to1000)
501 - Gaucher’s disease is autosomal recessive sphingolipidosis (sulfatidose) - mutations in glucocerebrosidase gene on 1q21 (also known as acid