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Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview.
Caciotti, Anna; Melani, Federico; Tonin, Rodolfo; Cellai, Lucrezia; Catarzi, Serena; Procopio, Elena; Chilleri, Chiara; Mavridou, Irene; Michelakakis, Helen; Fioravanti, Antonella; d'Azzo, Alessandra; Guerrini, Renzo; Morrone, Amelia.
Afiliación
  • Caciotti A; Paediatric Neurology Unit and Laboratories, Meyer Children's Hospital, Florence, Italy.
  • Melani F; Paediatric Neurology Unit and Laboratories, Meyer Children's Hospital, Florence, Italy.
  • Tonin R; Paediatric Neurology Unit and Laboratories, Meyer Children's Hospital, Florence, Italy.
  • Cellai L; Paediatric Neurology Unit and Laboratories, Meyer Children's Hospital, Florence, Italy.
  • Catarzi S; Paediatric Neurology Unit and Laboratories, Meyer Children's Hospital, Florence, Italy; Department of NEUROFARBA, University of Florence, Florence, Italy.
  • Procopio E; Metabolic and Muscular Unit, Meyer Children's Hospital, Florence, Italy.
  • Chilleri C; Paediatric Neurology Unit and Laboratories, Meyer Children's Hospital, Florence, Italy.
  • Mavridou I; Division of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece.
  • Michelakakis H; Division of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece.
  • Fioravanti A; Structural Biology, Research Center-VIB (Flanders Interuniversity Institute for Biotechnology), University of Brussels, Belgium.
  • d'Azzo A; Dep. of Genetics, St. Jude Children's Research Hospital, Memphis, TN, USA.
  • Guerrini R; Paediatric Neurology Unit and Laboratories, Meyer Children's Hospital, Florence, Italy; Department of NEUROFARBA, University of Florence, Florence, Italy.
  • Morrone A; Paediatric Neurology Unit and Laboratories, Meyer Children's Hospital, Florence, Italy; Department of NEUROFARBA, University of Florence, Florence, Italy. Electronic address: amelia.morrone@meyer.it.
Mol Genet Metab ; 129(2): 47-58, 2020 02.
Article en En | MEDLINE | ID: mdl-31711734
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ataxia / Mucolipidosis / Mioclonía / Neuraminidasa Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2020 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Estados Unidos
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ataxia / Mucolipidosis / Mioclonía / Neuraminidasa Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2020 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Estados Unidos