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Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review.
Vanier, Marie T; Gissen, Paul; Bauer, Peter; Coll, Maria J; Burlina, Alberto; Hendriksz, Christian J; Latour, Philippe; Goizet, Cyril; Welford, Richard W D; Marquardt, Thorsten; Kolb, Stefan A.
Afiliação
  • Vanier MT; INSERM Unit 820, 7 Rue Guillaume Paradin, 69008 Lyon, France; Laboratoire Gillet-Mérieux, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, 69500 Bron, France. Electronic address: marie-t.vanier@inserm.fr.
  • Gissen P; UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK; Great Ormond Street Hospital, London WC1N 3JH, UK. Electronic address: p.gissen@ucl.ac.uk.
  • Bauer P; Institute of Medical Genetics and Applied Genomics, University Hospital of Tübingen, 72076 Tübingen, Germany. Electronic address: peter.bauer@med.uni-tuebingen.de.
  • Coll MJ; Inborn Errors of Metabolism Section, Biochemistry and Molecular Genetics Service, Hospital Clínic of Barcelona, 08036 Barcelona, Spain; CIBERER, Spain. Electronic address: mjcoll@clinic.ub.es.
  • Burlina A; Division of Inherited Metabolic Diseases, Department of Pediatrics, University Hospital, 35129 Padova, Italy. Electronic address: alberto.burlina@unipd.it.
  • Hendriksz CJ; The Mark Holland Metabolic Unit, Salford Royal Foundation NHS Trust, Salford, Manchester M68HD, UK; University of Pretoria, Steve Biko Academic Hospital, Department of Paediatrics and Child Health, Pretoria 0001, South Africa. Electronic address: chris.hendriksz@srft.nhs.uk.
  • Latour P; UF de Neurogénétique Moléculaire, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, 69500 Bron, France. Electronic address: philippe.latour@chu-lyon.fr.
  • Goizet C; CHU Bordeaux, Department of Medical Genetics, 33076 Bordeaux, France; INSERM Unit 1211, University of Bordeaux, 33076 Bordeaux, France. Electronic address: cyril.goizet@chu-bordeaux.fr.
  • Welford RW; Actelion Pharmaceuticals Ltd., Gewerbestrasse 16, 4123 Allschwil, Switzerland. Electronic address: richard.welford@actelion.com.
  • Marquardt T; Unit for Inborn Errors of Metabolism, University Hospital Münster, 48149 Münster, Germany. Electronic address: thorsten.marquardt@ukmuenster.de.
  • Kolb SA; Actelion Pharmaceuticals Ltd., Gewerbestrasse 16, 4123 Allschwil, Switzerland. Electronic address: stefan.kolb@actelion.com.
Mol Genet Metab ; 118(4): 244-54, 2016 08.
Article em En | MEDLINE | ID: mdl-27339554
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Glicoproteínas de Membrana / Glicoproteínas / Biomarcadores / Proteínas de Transporte / Doença de Niemann-Pick Tipo C Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Glicoproteínas de Membrana / Glicoproteínas / Biomarcadores / Proteínas de Transporte / Doença de Niemann-Pick Tipo C Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article