Dihydropyridine Reductase Deficiency: Acute Encephalopathy Related to Folinic Acid Treatment Interruption in a Girl.

Pappalardo, Maria Grazia; Di Nora, Alessandra; Giugno, Andrea; Meli, Concetta; Sapuppo, Annamaria; Pavone, Piero; Fiumara, Agata

Pappalardo, Maria Grazia; Di Nora, Alessandra; Giugno, Andrea; Meli, Concetta; Sapuppo, Annamaria; Pavone, Piero; Fiumara, Agata.

Afiliação

Pappalardo MG; Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
Di Nora A; Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
Giugno A; Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
Meli C; Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
Sapuppo A; Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
Pavone P; Unit of Clinical Pediatrics, AOU "Policlinico," PO "G. Rodolico," University of Catania, Catania, Italy.
Fiumara A; Child Neurology and Psychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.

Glob Med Genet ; 9(3): 247-251, 2022 Sep.

Article em En | MEDLINE | ID: mdl-36132999

Palavras-chave

encephalopathy; genetic disorder; metabolic disease

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Texto completo: 1 Bases de dados: MEDLINE Idioma: En Revista: Glob Med Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Itália