An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria

• Main Authors: Weigel Corina (Author), Topf Hans G (Author), Schellmoser Stefan (Author), Zschocke Johannes (Author), Knerr Ina (Author), Dötsch Jörg (Author), Rascher Wolfgang (Author)
• Format: Book
• Published: BMC, 2005-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>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 phenyl...