| Tetrahydrobiopterin and maternal PKU. | |
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MedLine Citation:
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PMID: 16338627 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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Richard Koch; Kathryn Moseley; Flemming Guttler |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Molecular genetics and metabolism Volume: 86 Suppl 1 ISSN: 1096-7192 ISO Abbreviation: Mol. Genet. Metab. Publication Date: 2005 Dec |
Date Detail:
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Created Date: 2005-12-12 Completed Date: 2006-05-22 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9805456 Medline TA: Mol Genet Metab Country: United States |
Other Details:
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Languages: eng Pagination: S139-41 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA. rkoch8@earthlink.net |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Amino Acid Metabolism, Inborn Errors Biopterin / analogs & derivatives*, therapeutic use Combined Modality Therapy Diet, Protein-Restricted* Female Humans Infant, Newborn Mutation Neonatal Screening Phenylalanine / administration & dosage, blood Phenylalanine Hydroxylase / genetics Phenylketonuria, Maternal / blood, genetics, therapy* Phenylketonurias Pregnancy |
| Chemical | |
Reg. No./Substance:
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17528-72-2/5,6,7,8-tetrahydrobiopterin; 22150-76-1/Biopterin; 63-91-2/Phenylalanine; EC 1.14.16.1/Phenylalanine Hydroxylase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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