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...

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Detalles Bibliográficos
Autores principales: Öztürk, Zeynep, Hirfanoğlu, Tuğba, İnci, Aslı, Okur, İlyas, Koç, Esin, Tümer, Leyla, Arhan, Ebru, Aydın, Kürşad, Serdaroğlu, Ayşe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2018
Materias:
Case Report
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

Internet

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

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