Literature DB >> 29025919

Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy.

Romain Deschamps1, Julien Savatovsky2, Catherine Vignal3, Matthieu Fisselier1, Apolline Imbard4, Barry Wolf5,6, Melinda Procter7, Olivier Gout1.   

Abstract

Entities:  

Keywords:  MRI; neurogenetics; neuroophthalmology

Mesh：

Year:  2017        PMID： 29025919     DOI： 10.1136/jnnp-2017-316644

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


× No keyword cloud information.
  5 in total

1.  Adult-Onset Biotinidase Deficiency Induces Acutely Progressing Leukoencephalopathy.

Authors:  Goichi Beck; Daisuke Hirozawa; Keiichiro Honma; Kousuke Baba; Hisae Sumi; Eiichi Morii; Shigeo Murayama; Hideki Mochizuki
Journal:  Neurol Clin Pract       Date:  2021-06

2.  Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis.

Authors:  Florentine Radelfahr; Korbinian M Riedhammer; Leonie F Keidel; Gwendolyn Gramer; Thomas Meitinger; Thomas Klopstock; Matias Wagner
Journal:  Neurol Genet       Date:  2020-10-13

3.  Any individual with multiple sclerosis who markedly improves neurologically with high-doses of biotin should be evaluated for biotinidase deficiency.

Authors:  Barry Wolf
Journal:  Mult Scler J Exp Transl Clin       Date:  2020-04-29

4.  Biotinidase deficiency is a rare, potentially treatable cause of peripheral neuropathy with or without optic neuropathy in adults.

Authors:  Elizabeth Kellom; Kimberly Stepien; Gregory Rice; Barry Wolf
Journal:  Mol Genet Metab Rep       Date:  2020-12-15

5.  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
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.