Garner and Klintworth's Pathobiology of Ocular Disease Part B, Third Edition
Disorders of amino acid metabolism
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, Chapter
Koeberl, DD; Young, S; Millington, D; Klintworth, GK
January 1, 2007
Of the many genetic disorders that express themselves as specific defects of amino acid metabolism, some, including two of Garrod’s four original “inborn errors of metabolism” (albinism, alkaptonuria), produce significant abnormalities in the ocular tissues (92). Several abnormalities in the metabolism of the essential amino acid phenylalanine and its oxidized derivative tyrosine are recognized. From the standpoint of the eye, albinism, alkaptonuria, and tyrosinemia are the most important.
Duke Scholars
Publication Date
January 1, 2007
Start / End Page
953 / 982
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Koeberl, D. D., Young, S., Millington, D., & Klintworth, G. K. (2007). Disorders of amino acid metabolism. In Garner and Klintworth’s Pathobiology of Ocular Disease Part B, Third Edition (pp. 953–982).
Koeberl, D. D., S. Young, D. Millington, and G. K. Klintworth. “Disorders of amino acid metabolism.” In Garner and Klintworth’s Pathobiology of Ocular Disease Part B, Third Edition, 953–82, 2007.
Koeberl DD, Young S, Millington D, Klintworth GK. Disorders of amino acid metabolism. In: Garner and Klintworth’s Pathobiology of Ocular Disease Part B, Third Edition. 2007. p. 953–82.
Koeberl, D. D., et al. “Disorders of amino acid metabolism.” Garner and Klintworth’s Pathobiology of Ocular Disease Part B, Third Edition, 2007, pp. 953–82.
Koeberl DD, Young S, Millington D, Klintworth GK. Disorders of amino acid metabolism. Garner and Klintworth’s Pathobiology of Ocular Disease Part B, Third Edition. 2007. p. 953–982.
Publication Date
January 1, 2007
Start / End Page
953 / 982