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...

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Detalles Bibliográficos
Autores principales: Knerr, Ina, Zschocke, Johannes, Schellmoser, Stefan, Topf, Hans G, Weigel, Corina, Dötsch, Jörg, Rascher, Wolfgang
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2005
Materias:
Case Report
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

Internet

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

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