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Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency.
Masnada, Silvia; Groenweg, Stefan; Saletti, Veronica; Chiapparini, Luisa; Castellotti, Barbara; Salsano, Ettore; Visser, W Edward; Tonduti, Davide.
Afiliação
  • Masnada S; Pediatric Neurology Unit, V. Buzzi Children's Hospital, Via Castelvetro 32, 20154, Milan, Italy.
  • Groenweg S; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy.
  • Saletti V; Department of Internal Medicine, Academic Center for Thyroid Diseases, Erasmus MC, University Medical Center, CN, Rotterdam, The Netherlands.
  • Chiapparini L; Child Neurology Department, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy.
  • Castellotti B; Neuroradiology Unit, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy.
  • Salsano E; Unit of Genetics of Neurodegenerative and Metabolic Diseases, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy.
  • Visser WE; Unit of Neurodegenerative and Neurometabolic Rare Diseases, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy.
  • Tonduti D; Department of Internal Medicine, Academic Center for Thyroid Diseases, Erasmus MC, University Medical Center, CN, Rotterdam, The Netherlands.
Metab Brain Dis ; 34(6): 1565-1575, 2019 12.
Article em En | MEDLINE | ID: mdl-31332729
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Atrofia Muscular / Transportadores de Ácidos Monocarboxílicos / Simportadores / Deficiência Intelectual Ligada ao Cromossomo X / Hipotonia Muscular / Mutação 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: Fenótipo / Atrofia Muscular / Transportadores de Ácidos Monocarboxílicos / Simportadores / Deficiência Intelectual Ligada ao Cromossomo X / Hipotonia Muscular / Mutação Idioma: En Ano de publicação: 2019 Tipo de documento: Article