Molecular Genetics and Metabolism 2005-Dec

Tetrahydrobiopterin and maternal PKU.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Kiungo kimehifadhiwa kwenye clipboard

Richard Koch

Kathryn Moseley

Flemming Guttler

KIFUNGU: 16338627

DOI: 10.1016/j.ymgme.2005.09.004

BioSeek: 16338627

Maneno muhimu

Kikemikali

A 29-year-old woman with PKU is presented, who was successfully treated with phenylalanine restriction as well as oral BH4 during this pregnancy, with a normal outcome. Her PAH mutation was R408W/F39L. Remarkably, the blood phenylalanine control was easily accomplished during this pregnancy. The lack of nausea and vomiting during the first trimester suggests that the occurrence of CHD in babies born to women with PKU may be reduced with BH4.

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Herbal & Natural Medicine

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Tetrahydrobiopterin and maternal PKU.

Maneno muhimu

phenylalanine

kichefuchefu

kutapika

Kikemikali

Hifadhidata kamili ya mimea ya dawa inayoungwa mkono na sayansi