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Citrullinemia Type I and Hypertrophic Pyloric Stenosis in a 1-Month Old Male Infant
Citrullinemia type I (CTLN1) is an inherited urea cycle disorder, now included in most newborn screening panels in the US and Europe. Due to argininosuccinate synthetase deficiency, CTLN1 can lead to recurrent hyperammonemic crisis that may result in permanent neurologic sequelae. Vomiting in patien...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
PAGEPress Publications, Pavia, Italy
2013
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3981224/ https://www.ncbi.nlm.nih.gov/pubmed/24765495 http://dx.doi.org/10.4081/cp.2013.e2 |