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: | , , , , , , , , |
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| Format: | Book |
| Published: |
MDPI AG,
2017-08-01T00:00:00Z.
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