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Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?
Gorcenco, Sorina; Vaz, Frédéric M; Tracewska-Siemiatkowska, Anna; Tranebjærg, Lisbeth; Cremers, Frans P M; Ygland, Emil; Kicsi, Jeno; Rendtorff, Nanna Dahl; Möller, Claes; Kjellström, Ulrika; Andréasson, Sten; Puschmann, Andreas.
Afiliação
  • Gorcenco S; Lund University, Skane University Hospital, Department of Clinical Sciences Lund, Neurology, Lund, Sweden. Electronic address: Sorina.Gorcenco@skane.se.
  • Vaz FM; Laboratory of Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
  • Tracewska-Siemiatkowska A; Department of Human Genetics, Radboud University Medical Center, 6525 GA, Nijmegen, the Netherlands; DNA Analysis Laboratory, Wroclaw Research Centre EIT+, 54-066 Wroclaw, Poland.
  • Tranebjærg L; Department of Clinical Genetics, The Kennedy Centre, Rigshospitalet, DK-2600 Glostrup, Denmark; Institute of Clinical Medicine, University of Copenhagen, DK-2200 Copenhagen N, Denmark.
  • Cremers FPM; Department of Human Genetics, Radboud University Medical Center, 6525 GA, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Ygland E; Lund University, Skane University Hospital, Department of Clinical Sciences Lund, Neurology, Lund, Sweden.
  • Kicsi J; Section for Neurology, Department of Internal Medicine, Central Hospital, Växjö, Sweden.
  • Rendtorff ND; Department of Clinical Genetics, The Kennedy Centre, Rigshospitalet, DK-2600 Glostrup, Denmark.
  • Möller C; Department of Audiology, Örebro University Hospital, Sweden.
  • Kjellström U; Lund University, Skane University Hospital, Department of Clinical Sciences Lund, Ophthalmology, Lund, Sweden.
  • Andréasson S; Lund University, Skane University Hospital, Department of Clinical Sciences Lund, Ophthalmology, Lund, Sweden.
  • Puschmann A; Lund University, Skane University Hospital, Department of Clinical Sciences Lund, Neurology, Lund, Sweden.
Parkinsonism Relat Disord ; 61: 245-247, 2019 04.
Article em En | MEDLINE | ID: mdl-30343981

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Paralisia Bulbar Progressiva / Riboflavina / Complexo Vitamínico B / Receptores Acoplados a Proteínas G / Perda Auditiva Neurossensorial Limite: Adult / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Paralisia Bulbar Progressiva / Riboflavina / Complexo Vitamínico B / Receptores Acoplados a Proteínas G / Perda Auditiva Neurossensorial Limite: Adult / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article