The American Journal of Human Genetics · 2000 · 117 citations · 14 references
Life SciencesGeneticsMolecular GeneticsEnzymologyHuman GeneticsMedical GeneticsAmino Acid MetabolismAmino Acid Metabolism DisordersEnzyme DeficienciesGenetic DisordersInborn Errors Of MetabolismMetabolic Pathway DefectsEnzyme Deficiency In Amino Acid MetabolismInherited Metabolic Enzyme Disorders
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Paul J. Markovitz, David Chuang, R. P. Cox · Journal of Biological Chemistry · 1984 · 88 citations · Full text