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Tyrosinemia II. A large North Carolina kindred

1985; American Medical Association; Volume: 145; Issue: 9 Linguagem: Inglês

10.1001/archinte.145.9.1697

1538-3679

Lowell A. Goldsmith,

Amino Acid Enzymes and Metabolism

In the past three decades there have been major efforts and successes in defining the molecular basis of inherited diseases. 1 Dermatologic researchers have partaken in these efforts, and diseases with major skin manifestations such as acrodermatitis enteropathica, albinism, alkaptonuria, Fabry's disease, hereditary angioedema, Menkes' disease, phenylketonuria, xeroderma pigmentosum, and X-linked ichthyosis have been associated with molecular defects. In addition, some of the forms of Ehlers-Danlos syndrome and the mucopolysaccharide storage disorders have also been associated with inborn errors of metabolism. HISTORICAL ASPECTS OF THE RICHNER-HANHART SYNDROME Our studies on the Rankin Research Ward at Duke University Medical Center (Durham, NC) allowed us to define and understand the molecular basis of a rare genetic disorder involving the skin and eye, the Richner-Hanhart syndrome (tyrosinemia II). Richner, a Swiss ophthalmologist, and Hanhart, a Swiss geneticist, described a syndrome in the late 1930s and mid 1940s that was associated with autosomal recessive