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Parkinsonism Relat Disord. 2018 Oct 15. pii: S1353-8020(18)30451-6. doi: 10.1016/j.parkreldis.2018.10.017. [Epub ahead of print]

Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?

Author information

1
Lund University, Skane University Hospital, Department of Clinical Sciences Lund, Neurology, Lund, Sweden. Electronic address: Sorina.Gorcenco@skane.se.
2
Laboratory of Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
3
Department of Human Genetics, Radboud University Medical Center, 6525 GA, Nijmegen, the Netherlands; DNA Analysis Laboratory, Wroclaw Research Centre EIT+, 54-066 Wroclaw, Poland.
4
Department of Clinical Genetics, The Kennedy Centre, Rigshospitalet, DK-2600 Glostrup, Denmark; Institute of Clinical Medicine, University of Copenhagen, DK-2200 Copenhagen N, Denmark.
5
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.
6
Lund University, Skane University Hospital, Department of Clinical Sciences Lund, Neurology, Lund, Sweden.
7
Section for Neurology, Department of Internal Medicine, Central Hospital, Växjö, Sweden.
8
Department of Clinical Genetics, The Kennedy Centre, Rigshospitalet, DK-2600 Glostrup, Denmark.
9
Department of Audiology, Örebro University Hospital, Sweden.
10
Lund University, Skane University Hospital, Department of Clinical Sciences Lund, Ophthalmology, Lund, Sweden.

KEYWORDS:

Adult; Ataxia; BVVLS2; Brown-Vialetto-Van Laere syndrome-2; Pharmacokinetics; Recessive; Riboflavin transporter deficiency; SLC52A2; Treatment

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