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

Thewamit, Rapeepat; Khongkhatithum, Chaiyos; Thampratankul, Lunliya; Kamolvisit, Wuttichart; Khongkrapan, Arthaporn; Wattanasirichaigoon, Duangrurdee

Thewamit, Rapeepat; Khongkhatithum, Chaiyos; Thampratankul, Lunliya; Kamolvisit, Wuttichart; Khongkrapan, Arthaporn; Wattanasirichaigoon, Duangrurdee.

Afiliação

Thewamit R; Division of Neurology, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Khongkhatithum C; Division of Neurology, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Thampratankul L; Division of Neurology, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Kamolvisit W; Division of Medical Genetics and Metabolism, Department of Pediatrics, King Chulalongkorn Memorial Hospital, Bangkok, Thailand.
Khongkrapan A; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Wattanasirichaigoon D; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

Front Pediatr ; 11: 1155035, 2023.

Article em En | MEDLINE | ID: mdl-37614902

Palavras-chave

cerebral venous sinus thrombosis; cleft palate; neonatal encephalopathy; nonketotic hyperglycinemia; whole exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Front Pediatr Ano de publicação: 2023 Tipo de documento: Article

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