Literature DB >> 26443808

Brown-Vialetto-Van Laere syndrome: a 28-year follow-up.

A Davis1, D Josifova2, S Lloyd-Owen3, A Radunovic1, M Swash1.   

Abstract

Keywords:  GENETICS; MOTOR NEURON DISEASE; RESPIRATORY MEDICINE

Mesh：

Year:  2015        PMID： 26443808     DOI： 10.1136/jnnp-2014-310088

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  4 in total

1.  Child Neurology: Brown-Vialetto-Van Laere syndrome: Dramatic visual recovery after delayed riboflavin therapy.

Authors:  Ahmed K Bamaga; Robi N Maamari; Susan M Culican; Marwan Shinawi; Paul T Golumbek
Journal:  Neurology       Date:  2018-11-13       Impact factor: 9.910

2.  Cochlear Implant in Brown-Vialetto-Van Laere Syndrome Patient.

Authors:  Maria Stella Arantes do Amaral; Eduardo T Massuda; Guilherme Henrique Mitikami Fenólio; Ana Cláudia Mirândola Barbosa Reis; Miguel Angelo Hyppolito
Journal:  J Int Adv Otol       Date:  2022-03       Impact factor: 1.316

Review 3.  Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience.

Authors:  Bregje Jaeger; Annet M Bosch
Journal:  J Inherit Metab Dis       Date:  2016-03-14       Impact factor: 4.982

4.  Mitochondrial and Peroxisomal Alterations Contribute to Energy Dysmetabolism in Riboflavin Transporter Deficiency.

Authors:  Fiorella Colasuonno; Alessia Niceforo; Chiara Marioli; Anna Fracassi; Fabrizia Stregapede; Keith Massey; Marco Tartaglia; Enrico Bertini; Claudia Compagnucci; Sandra Moreno
Journal:  Oxid Med Cell Longev       Date:  2020-08-12       Impact factor: 6.543
  4 in total

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