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Maternal Phenylketonuria and Tetrahydrobiopterin

1 Dec 2008

Abstract excerpt

Untreated maternal phenylketonuria (PKU) results in a significant occurrence of microcephaly and congenital heart disease in the offspring. Before the documentation of this fact by Lenke and Levy1 in 1980, there was confusion as to the occurrence of these abnormalities. In fact, a chapter by Knox in the 1966 book The Metabolic Basis of Inherited Disease 2 concluded: “Births of normal children from phenylketonuric...

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PMID: 19047257
DOI: 10.1542/peds.2008-2783

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