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Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort.
Gutiérrez-Rivas, E; Bautista, J; Vílchez, J J; Muelas, N; Díaz-Manera, J; Illa, I; Martínez-Arroyo, A; Olivé, M; Sanz, I; Arpa, J; Fernández-Torrón, R; López de Munáin, A; Jiménez, L; Solera, J; Lukacs, Z.
Afiliação
  • Gutiérrez-Rivas E; Department of Neurology, Neuromuscular Unit, 12 de Octubre University Hospital, Madrid, Spain. Electronic address: doctoregr@gmail.com.
  • Bautista J; Department of Neurology, Sagrado Corazón Clinic, Seville, Spain.
  • Vílchez JJ; La Fe University and Polytechnic Hospital, Valencia, Spain.
  • Muelas N; La Fe University and Polytechnic Hospital, Valencia, Spain.
  • Díaz-Manera J; Neuromuscular Pathology Unit, Department of Neurology, Santa Creu i Sant Pau Hospital, Barcelona, Spain.
  • Illa I; Neuromuscular Pathology Unit, Department of Neurology, Santa Creu i Sant Pau Hospital, Barcelona, Spain.
  • Martínez-Arroyo A; Neuropathology Institute IDIBELL, Bellvitge Hospital, Barcelona, Spain.
  • Olivé M; Neuropathology Institute IDIBELL, Bellvitge Hospital, Barcelona, Spain.
  • Sanz I; Department of Neurology, La Paz University Hospital, Madrid, Spain.
  • Arpa J; Department of Neurology, La Paz University Hospital, Madrid, Spain.
  • Fernández-Torrón R; Department of Neurology, Donostia University Hospital, San Sebastián, Spain.
  • López de Munáin A; Department of Neurology, Donostia University Hospital, San Sebastián, Spain.
  • Jiménez L; Clínical Biochemistry Section, Virgen del Rocío University Hospital, Seville, Spain.
  • Solera J; Molecular Oncogenetic Unit, Institute of Medical and Molecular Genetics, La Paz University Hospital, Madrid, Spain.
  • Lukacs Z; Institute of Clinical Chemistry, Department of Pediatrics, Hamburg University Medical Center, Hamburg, Germany.
Neuromuscul Disord ; 25(7): 548-53, 2015 Jul.
Article em En | MEDLINE | ID: mdl-25998610
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Depósito de Glicogênio Tipo II / Creatina Quinase / Distrofia Muscular do Cíngulo dos Membros / Teste em Amostras de Sangue Seco / Doenças Metabólicas Tipo de estudo: Clinical_trials / Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Adolescent / Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Neuromuscul Disord Ano de publicação: 2015 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Depósito de Glicogênio Tipo II / Creatina Quinase / Distrofia Muscular do Cíngulo dos Membros / Teste em Amostras de Sangue Seco / Doenças Metabólicas Tipo de estudo: Clinical_trials / Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Adolescent / Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Neuromuscul Disord Ano de publicação: 2015 Tipo de documento: Article