Dissemin is shutting down on January 1st, 2025

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De Gruyter, Journal of Pediatric Endocrinology and Metabolism, 2(29), 2016

DOI: 10.1515/jpem-2015-0198

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Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin

Journal article published in 2016 by Ozden O. Horoz, Neslihan O. Mungan, Dincer Yildizdas, Özlem Hergüner, Serdar Ceylaner ORCID, Deniz Kör, Hans Waterham, Turgay Coskun
Distributing this paper is prohibited by the publisher
Distributing this paper is prohibited by the publisher

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Abstract

AbstractBrown-Vialetto-Van Laere syndrome (BVVLS) is a rare and severe neurometabolic disease. We present two siblings with BVVLS with a novel homozygous mutation in