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Novel variants in a patient with late-onset hyperprolinemia type II: diagnostic key for status epilepticus and lactic acidosis.
Motte, Jeremias; Fisse, Anna Lena; Grüter, Thomas; Schneider, Ruth; Breuer, Thomas; Lücke, Thomas; Krueger, Stefan; Nguyen, Huu Phuc; Gold, Ralf; Ayzenberg, Ilya; Ellrichmann, Gisa.
Afiliação
  • Motte J; Department of Neurology, St. Josef-Hospital, Ruhr-University Bochum, Gudrunstrasse 56, 44791, Bochum, Germany. Jeremias.Motte@rub.de.
  • Fisse AL; Department of Neurology, St. Josef-Hospital, Ruhr-University Bochum, Gudrunstrasse 56, 44791, Bochum, Germany.
  • Grüter T; Department of Neurology, St. Josef-Hospital, Ruhr-University Bochum, Gudrunstrasse 56, 44791, Bochum, Germany.
  • Schneider R; Department of Neurology, St. Josef-Hospital, Ruhr-University Bochum, Gudrunstrasse 56, 44791, Bochum, Germany.
  • Breuer T; Department of Internal Medicine, St. Josef-Hospital, Ruhr-University Bochum, Bochum, Germany.
  • Lücke T; University Children's Hospital, St. Josef-Hospital, Ruhr-University Bochum, Bochum, Germany.
  • Krueger S; Center for Rare Diseases Ruhr (CeSER), Ruhr-University Bochum, Bochum, Germany.
  • Nguyen HP; Gemeinschaftspraxis für Humangenetik, Dresden, Germany.
  • Gold R; Center for Rare Diseases Ruhr (CeSER), Ruhr-University Bochum, Bochum, Germany.
  • Ayzenberg I; Department of Human Genetics, Ruhr-University Bochum, Bochum, Germany.
  • Ellrichmann G; Department of Neurology, St. Josef-Hospital, Ruhr-University Bochum, Gudrunstrasse 56, 44791, Bochum, Germany.
BMC Neurol ; 19(1): 345, 2019 Dec 29.
Article em En | MEDLINE | ID: mdl-31884946
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: 1-Pirrolina-5-Carboxilato Desidrogenase / Erros Inatos do Metabolismo dos Aminoácidos Tipo de estudo: Diagnostic_studies / Etiology_studies Limite: Adult / Female / Humans Idioma: En Revista: BMC Neurol Assunto da revista: NEUROLOGIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: 1-Pirrolina-5-Carboxilato Desidrogenase / Erros Inatos do Metabolismo dos Aminoácidos Tipo de estudo: Diagnostic_studies / Etiology_studies Limite: Adult / Female / Humans Idioma: En Revista: BMC Neurol Assunto da revista: NEUROLOGIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Reino Unido