Case report: Severe nonketotic hyperglycinemia in a neonate without apparent seizures but concomitant cleft palate and cerebral sinovenous thrombosis

Nonketotic hyperglycinemia (NKH) is in most cases a fatal inborn error of metabolism which usually presents during the neonatal period as encephalopathy and refractory seizures. The reported congenital anomalies associated with NKH included corpus callosal agenesis, club foot, cleft palate, and cong...

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Detalles Bibliográficos
Autores principales: Thewamit, Rapeepat, Khongkhatithum, Chaiyos, Thampratankul, Lunliya, Kamolvisit, Wuttichart, Khongkrapan, Arthaporn, Wattanasirichaigoon, Duangrurdee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10442541/
https://www.ncbi.nlm.nih.gov/pubmed/37614902
http://dx.doi.org/10.3389/fped.2023.1155035

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