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An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria
BACKGROUND: Phenylketonuria is an inborn error of amino acid metabolism which can cause severe damage to the patient or, in the case of maternal phenylketonuria, to the foetus. The maternal phenylketonuria syndrome is caused by high blood phenylalanine concentrations during pregnancy and presents wi...
| Autores principales: | , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2005
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1079877/ https://www.ncbi.nlm.nih.gov/pubmed/15811181 http://dx.doi.org/10.1186/1471-2431-5-5 |