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

Gorcenco, Sorina (author)
Lund University,Lunds universitet,Klinisk neurogenetik,Forskargrupper vid Lunds universitet,Clinical Neurogenetics,Lund University Research Groups,Skåne University Hospital
Vaz, Frédéric M. (author)
Laboratory of Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands,Academic Medical Center of University of Amsterdam (AMC)
Tracewska-Siemiatkowska, Anna (author)
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; DNA Analysis Laboratory, Wroclaw Research Centre EIT+, Wroclaw, Poland
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Tranebjaerg, Lisbeth (author)
Department of Clinical Genetics, The Kennedy Centre, Rigshospitalet, Glostrup, Denmark; Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark,Copenhagen University Hospital
Cremers, Frans P. M. (author)
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands
Ygland, Emil (author)
Lund University,Lunds universitet,Klinisk neurogenetik,Forskargrupper vid Lunds universitet,Clinical Neurogenetics,Lund University Research Groups,Skåne University Hospital
Kicsi, Jeno (author)
Section for Neurology, Department of Internal Medicine, Central Hospital, Växjö, Sweden
Rendtorff, Nanna Dahl (author)
Department of Clinical Genetics, The Kennedy Centre, Rigshospitalet, Glostrup, Denmark,Copenhagen University Hospital
Möller, Claes, 1950- (author)
Örebro universitet,Institutionen för medicinska vetenskaper,Department of Audiology,Örebro University Hospital
Kjellström, Ulrika (author)
Lund University,Lunds universitet,Klinisk forskning kring familjer med ärftliga näthinnesjukdomar,Forskargrupper vid Lunds universitet,Clinical research in families with inherited retinal degeneration,Lund University Research Groups,Skåne University Hospital
Andréasson, Sten (author)
Lund University,Lunds universitet,Oftalmologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Ophthalmology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital
Puschmann, Andreas (author)
Lund University,Lunds universitet,Klinisk neurogenetik,Forskargrupper vid Lunds universitet,Clinical Neurogenetics,Lund University Research Groups,Skåne University Hospital
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 (creator_code:org_t)
Elsevier, 2019
2019
English.
In: Parkinsonism & Related Disorders. - : Elsevier. - 1353-8020 .- 1873-5126. ; 61, s. 245-247
  • Journal article (peer-reviewed)
Subject headings
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Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Neurologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Neurology (hsv//eng)

Keyword

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

Publication and Content Type

ref (subject category)
art (subject category)

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