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3FC1.5 Biotin-responsive basal ganglia disease: New features in two Spanish siblings with mutations in the second thiamine transporter gene SLC19A3
Authors:M. Serrano  V. González  M. Pineda  E. Fernandez-Alvarez  R. Artuch  L. Martorell  F. Sedel  C. Depienne  B. Perez-Dueñas
Affiliation:1. Department of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet, 17176 Stockholm, Sweden;2. Center for Molecular Medicine, Karolinska Institutet, 17176 Stockholm, Sweden;3. Department of Clinical Chemistry, VU University Medical Center, 1081 HV Amsterdam, The Netherlands;4. Department of Clinical Chemistry, Sahlgrenska University Hospital, 41345 Gothenburg, Sweden;5. Department of Molecular Medicine and Surgery, Karolinska Institutet, 17176 Stockholm, Sweden;6. Centre for Inherited Metabolic Diseases, Karolinska University Hospital, 14186 Stockholm, Sweden;7. Department of Laboratory Medicine, Karolinska Institutet, 14183 Stockholm, Sweden;8. Genetics Department, Kuala Lumpur Hospital, Kuala Lumpur 50586, Malaysia;9. Department of Pediatrics, Falu lasarett, 79182 Falun, Sweden;10. Department of Women''s and Children''s Health, Akademiska University Hospital, 75105 Uppsala, Sweden;11. Institute of Biomedicine, University of Gothenburg, 40530 Gothenburg, Sweden;12. Science for Life Laboratory, Royal Institute of Technology, School of Biotechnology, 17121 Solna, Sweden
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