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Child Neurology: Type 1 sialidosis due to a novel mutation in NEU1 gene.
Aravindhan, Akilandeswari; Veerapandiyan, Aravindhan; Earley, Chelsea; Thulasi, Venkatraman; Kresge, Christina; Kornitzer, Jeffrey.
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  • Aravindhan A; From the Department of Neurology, Division of Pediatric Neurology (A.A., C.E., V.T., J.K.), and Department of Pediatrics, Division of Clinical Genetics (C.K.), Rutgers New Jersey Medical School, Newark; and Department of Neurology (A.V.), University of Rochester Medical Center, NY.
  • Veerapandiyan A; From the Department of Neurology, Division of Pediatric Neurology (A.A., C.E., V.T., J.K.), and Department of Pediatrics, Division of Clinical Genetics (C.K.), Rutgers New Jersey Medical School, Newark; and Department of Neurology (A.V.), University of Rochester Medical Center, NY.
  • Earley C; From the Department of Neurology, Division of Pediatric Neurology (A.A., C.E., V.T., J.K.), and Department of Pediatrics, Division of Clinical Genetics (C.K.), Rutgers New Jersey Medical School, Newark; and Department of Neurology (A.V.), University of Rochester Medical Center, NY.
  • Thulasi V; From the Department of Neurology, Division of Pediatric Neurology (A.A., C.E., V.T., J.K.), and Department of Pediatrics, Division of Clinical Genetics (C.K.), Rutgers New Jersey Medical School, Newark; and Department of Neurology (A.V.), University of Rochester Medical Center, NY.
  • Kresge C; From the Department of Neurology, Division of Pediatric Neurology (A.A., C.E., V.T., J.K.), and Department of Pediatrics, Division of Clinical Genetics (C.K.), Rutgers New Jersey Medical School, Newark; and Department of Neurology (A.V.), University of Rochester Medical Center, NY.
  • Kornitzer J; From the Department of Neurology, Division of Pediatric Neurology (A.A., C.E., V.T., J.K.), and Department of Pediatrics, Division of Clinical Genetics (C.K.), Rutgers New Jersey Medical School, Newark; and Department of Neurology (A.V.), University of Rochester Medical Center, NY. kornitjm@njms.rut
Neurology ; 90(13): 622-624, 2018 03 27.
Article en En | MEDLINE | ID: mdl-29581327
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Mucolipidosis / Mutación / Neuraminidasa Tipo de estudio: Diagnostic_studies Límite: Adult / Humans / Male Idioma: En Revista: Neurology Año: 2018 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Mucolipidosis / Mutación / Neuraminidasa Tipo de estudio: Diagnostic_studies Límite: Adult / Humans / Male Idioma: En Revista: Neurology Año: 2018 Tipo del documento: Article