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AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency.
Cappuccio, Gerarda; Torella, Annalaura; Mastrangelo, Mario; Carducci, Claudia; Nigro, Vincenzo; Brunetti-Pierri, Nicola; Leuzzi, Vincenzo.
Afiliação
  • Cappuccio G; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.
  • Torella A; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
  • Mastrangelo M; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
  • Carducci C; Medical Genetics, Department of Biochemistry, Biophysics and General Pathology, University of Campania 'Luigi Vanvitelli', Naples, Italy.
  • Nigro V; Department of Human Neurosciences, Unit of Infantile Neurology and Psychiatry, University of Rome 'La Sapienza', Rome, Italy.
  • Brunetti-Pierri N; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
  • Leuzzi V; Medical Genetics, Department of Biochemistry, Biophysics and General Pathology, University of Campania 'Luigi Vanvitelli', Naples, Italy.
Acta Paediatr ; 108(3): 564-565, 2019 03.
Article em En | MEDLINE | ID: mdl-30383884
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Subunidades sigma do Complexo de Proteínas Adaptadoras / Transtornos do Neurodesenvolvimento / Deficiência de Ácido Fólico Limite: Child / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Subunidades sigma do Complexo de Proteínas Adaptadoras / Transtornos do Neurodesenvolvimento / Deficiência de Ácido Fólico Limite: Child / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article