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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...

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Bibliografiske detaljer
Main Authors: Knerr, Ina, Zschocke, Johannes, Schellmoser, Stefan, Topf, Hans G, Weigel, Corina, Dötsch, Jörg, Rascher, Wolfgang
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2005
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1079877/
https://ncbi.nlm.nih.gov/pubmed/15811181
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2431-5-5
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