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A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.
Barone, Rita; Carrozzi, M; Parini, R; Battini, R; Martinelli, D; Elia, M; Spada, M; Lilliu, F; Ciana, G; Burlina, A; Leuzzi, V; Leoni, M; Sturiale, L; Matthijs, G; Jaeken, J; Di Rocco, M; Garozzo, D; Fiumara, A.
Affiliation
  • Barone R; Pediatric Neurology Policlinico, University of Catania, Via Santa Sofia, 78, 95123, Catania, Italy, rbarone@unict.it.
J Neurol ; 262(1): 154-64, 2015 Jan.
Article in En | MEDLINE | ID: mdl-25355454
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Severity of Illness Index / Olivopontocerebellar Atrophies / Phosphotransferases (Phosphomutases) / Congenital Disorders of Glycosylation Type of study: Etiology_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Country/Region as subject: Europa Language: En Journal: J Neurol Year: 2015 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Severity of Illness Index / Olivopontocerebellar Atrophies / Phosphotransferases (Phosphomutases) / Congenital Disorders of Glycosylation Type of study: Etiology_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Country/Region as subject: Europa Language: En Journal: J Neurol Year: 2015 Document type: Article