Literature DB >> 25556014

Brainstem and spinal cord lesions associated with skin changes and hearing loss: think of biotinidase deficiency.

Sébastien Cabasson1, Serge Rivera1, Samir Mesli2, Elisabeth Dulubac3.   

Abstract

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Year:  2014        PMID： 25556014     DOI： 10.1016/j.jpeds.2014.11.023

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  3 in total

1.  Outcomes of oral biotin treatment in patients with biotinidase deficiency - Twenty years follow-up.

Authors:  Edyta Szymańska; Małgorzata Średzińska; Agnieszka Ługowska; Magdalena Pajdowska; Dariusz Rokicki; Anna Tylki-Szymańska
Journal:  Mol Genet Metab Rep       Date:  2015-10-06

2.  Whole-Exome Sequencing Reveals a Missense Variant c.1612C>T (p.Arg538Cys) in the BTD Gene Leading to Neuromyelitis Optica Spectrum Disorder in Saudi Families.

Authors:  Muhammad Imran Naseer; Peter Natesan Pushparaj; Angham Abdulrahman Abdulkareem; Osama Y Muthaffar
Journal:  Front Pediatr       Date:  2022-02-21       Impact factor: 3.418

3.  Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy.

Authors:  Géraldine Van Winckel; Diana Ballhausen; Barry Wolf; Melinda Procter; Rong Mao; Patricie Burda; Davide Strambo; Thierry Kuntzer; Christel Tran
Journal:  Front Neurol       Date:  2020-10-26       Impact factor: 4.003
  3 in total

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