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Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the FOLR1 gene.
Brunetti, Sara; Malerba, Laura; Giordano, Lucio; Parrini, Elena; Guerrini, Renzo; Palumbo, Giovanni; Parazzini, Cecilia; Bestetti, Ilaria; Accorsi, Patrizia.
Afiliação
  • Brunetti S; Child and Adolescent Neurology and Psychiatry Unit, Children Hospital, ASST Spedali Civili of Brescia, Brescia, Italy.
  • Malerba L; Child and Adolescent Neurology and Psychiatry Unit, Children Hospital, ASST Spedali Civili of Brescia, Brescia, Italy.
  • Giordano L; Child and Adolescent Neurology and Psychiatry Unit, Children Hospital, ASST Spedali Civili of Brescia, Brescia, Italy.
  • Parrini E; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Centre, A. Meyer Children's Hospital, University of Florence, Florence, Italy.
  • Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Centre, A. Meyer Children's Hospital, University of Florence, Florence, Italy.
  • Palumbo G; Neuroradiology Department, University of Brescia, Brescia, Italy.
  • Parazzini C; Pediatric radiology and neuroradiology Department, Children's Hospital V. Buzzi, Milan, Italy.
  • Bestetti I; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.
  • Accorsi P; Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy.
Am J Med Genet A ; 185(8): 2526-2531, 2021 08.
Article em En | MEDLINE | ID: mdl-34008900
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Distrofias Neuroaxonais / Predisposição Genética para Doença / Irmãos / Estudos de Associação Genética / Receptor 1 de Folato Tipo de estudo: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Am J Med Genet A Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Itália
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Distrofias Neuroaxonais / Predisposição Genética para Doença / Irmãos / Estudos de Associação Genética / Receptor 1 de Folato Tipo de estudo: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Am J Med Genet A Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Itália