Phenylketonuria and Hirschsprung Disease-A Report of an Unusual Neonatal Presentation

We describe a term born boy of non-consanguineous Swiss parents with tetrahydrobiopterine (BH4)-responsive Phenylketonuria (PKU) and Hirschsprung disease with unusual neonatal presentation. The child presented with floppiness, irritability, recurrent bilious vomiting and failure to pass meconium unt...

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Main Authors: Nina Lenherr (Author), Viktoria A. Pfeifle (Author), Stefan Holland-Cunz (Author), Susanna H. M. Sluka (Author), Beat Thöny (Author), Gabor Szinnai (Author), Martina Huemer (Author), Marianne Rohrbach (Author), Ralph Fingerhut (Author)
Format: Book
Published: MDPI AG, 2017-08-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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