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

• Главные авторы: Nina Lenherr (Автор), Viktoria A. Pfeifle (Автор), Stefan Holland-Cunz (Автор), Susanna H. M. Sluka (Автор), Beat Thöny (Автор), Gabor Szinnai (Автор), Martina Huemer (Автор), Marianne Rohrbach (Автор), Ralph Fingerhut (Автор)
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• Опубликовано: MDPI AG, 2017-08-01T00:00:00Z.
• Предметы: article
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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...