We now understand the biochemical basis of this disorder, which affects one person in 500 in the United States. It is inherited as an autosomal dominant or quasi-dominant trait, with phenotypic effects expressed in heterozygotes as well as in homozygotes. Diagnosis is possible at birth, but effective treatment is thus far available only for the heterozygous form.
|Original language||English (US)|
|Number of pages||12|
|Publication status||Published - 1985|
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