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Citrullinemia with an Atypical Presentation: Paroxysmal Hypoventilation Attacks
Citrullinemia type 1 (CTLN1) is a rare inherited urea cycle disorder, which resulted from the deficiency of argininosuccinate synthetase enzyme. We presented an infant who was hospitalized because of acute losses of tonus and cyanotic hypoventilation attacks lasting approximately 4–5 min. The physic...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Medknow Publications & Media Pvt Ltd
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057205/ https://www.ncbi.nlm.nih.gov/pubmed/30090157 http://dx.doi.org/10.4103/jpn.JPN_144_17 |