Science · 1964 · 84 citations · 8 references
Life SciencesNeurologyNeuroscienceNeurochemistryNeurogeneticsAmino Acid Metabolism DisordersEnzyme DeficienciesMetabolic Pathway DefectsEnzymatic BiosynthesisHomocysteine Metabolism DisordersMethionine Deficiency
Cystathionine was absent in the cerebrum of a patient with homocystinuria. This supports the theory that the enzymatic defect in homocystinuria is deficiency of cystathionine synthetase.
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Homocystinuria: An Enzymatic Defect
S. Harvey Mudd, James D. Finkelstein, F. Irreverre et al. · Science · 1964 · 523 citations
l-CYSTATHIONINE IN HUMAN BRAIN
Harris H. Tallan, Stanford Moore, William H. Stein · Journal of Biological Chemistry · 1958 · 181 citations · Full text
HOMOCYSTINURIA, AN ERROR IN THE METABOLISM OF METHIONINE
Theo Gerritsen, Harry A. Waisman · PEDIATRICS · 1964 · 102 citations