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A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile.
Farnè, Marianna; Tedesco, Giovanna M; Bedetti, Chiara; Mencarelli, Amedea; Rogaia, Daniela; Colavito, Davide; Di Cara, Giuseppe; Stangoni, Gabriela; Troiani, Stefania; Ferlini, Alessandra; Prontera, Paolo.
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  • Farnè M; Medical Genetics Unit, Santa Maria della Misericordia Hospital, University of Perugia, Perugia, Italy.
  • Tedesco GM; Medical Genetics Unit, Department of Medical Sciences, Ferrara University Hospital, Italy.
  • Bedetti C; Medical Genetics Unit, Santa Maria della Misericordia Hospital, University of Perugia, Perugia, Italy.
  • Mencarelli A; Clinical Genetics Unit, Department of Women and Children's Health, University of Padova, Padova, Italy.
  • Rogaia D; Genetics Unit, "Mauro Baschirotto" Institute for Rare Diseases (B.I.R.D.), Costozza di Longare, Vicenza, Italy.
  • Colavito D; Istituto Serafico Assisi, Perugia, Italy.
  • Di Cara G; Medical Genetics Unit, Santa Maria della Misericordia Hospital, University of Perugia, Perugia, Italy.
  • Stangoni G; Medical Genetics Unit, Santa Maria della Misericordia Hospital, University of Perugia, Perugia, Italy.
  • Troiani S; Research&Innovation Srl, Padova, Italy.
  • Ferlini A; Pediatric Unit, Santa Maria della Misericordia Hospital, University of Perugia, Perugia, Italy.
  • Prontera P; Medical Genetics Unit, Santa Maria della Misericordia Hospital, University of Perugia, Perugia, Italy.
Am J Med Genet A ; 182(10): 2377-2383, 2020 10.
Article en En | MEDLINE | ID: mdl-32744787
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Atrofias Olivopontocerebelosas / Aciltransferasas / Predisposición Genética a la Enfermedad / Proteínas de la Membrana / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Año: 2020 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Atrofias Olivopontocerebelosas / Aciltransferasas / Predisposición Genética a la Enfermedad / Proteínas de la Membrana / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Año: 2020 Tipo del documento: Article