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Oral therapy for riboflavin transporter deficiency: What is the regimen of choice?
Lund University, Skane University Hospital, Department of Clinical Sciences Lund, Neurology, Lund, Sweden.
Laboratory of Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; DNA Analysis Laboratory, Wroclaw Research Centre EIT+, Wroclaw, Poland.ORCID iD: 0000-0001-9690-4458
Department of Clinical Genetics, The Kennedy Centre, Rigshospitalet, Glostrup, Denmark; Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
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2019 (English)In: Parkinsonism & Related Disorders, ISSN 1353-8020, E-ISSN 1873-5126, Vol. 61, p. 245-247Article in journal, Letter (Refereed) Published
Place, publisher, year, edition, pages
Elsevier, 2019. Vol. 61, p. 245-247
Keywords [en]
Ataxia, Recessive, Riboflavin transporter deficiency, Treatment, Brown-Vialetto-Van Laere syndrome-2, BVVLS2, Pharmacokinetics, SLC52A2, Adult
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Neurology
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URN: urn:nbn:se:oru:diva-74642DOI: 10.1016/j.parkreldis.2018.10.017ISI: 000468719900047PubMedID: 30343981Scopus ID: 2-s2.0-85065409488OAI: oai:DiVA.org:oru-74642DiVA, id: diva2:1322023
Note

Funding Agencies:

Sickle University Hospital Research Foundation  

Swedish Parkinson Foundation (Parkinsonfonden) in Sweden  

Swedish National Health Services (ALF-YF) in Sweden  

MultiPark a strategic research environment at Lund University in Sweden  

Swedish Parkinson Academy in Sweden  

Hans-Gabriel and Alice Trolle-Wachtmeister Foundation for Medical Research in Sweden  

National Human Genome Research Institute  

National Heart, Lung and Blood Institute  1U54HG006493 

Available from: 2019-06-10 Created: 2019-06-10 Last updated: 2019-06-10Bibliographically approved

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Möller, Claes

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