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...

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Detalles Bibliográficos
Autores principales: Rhee, Yoona, Heaton, Todd, Keegan, Catherine, Ahmad, Ayesha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PAGEPress Publications, Pavia, Italy 2013
Materias:
Case Report
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

Internet

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

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