Literature DB >> 34484923

Adult-Onset Biotinidase Deficiency Induces Acutely Progressing Leukoencephalopathy.

Goichi Beck1, Daisuke Hirozawa1, Keiichiro Honma1, Kousuke Baba1, Hisae Sumi1, Eiichi Morii1, Shigeo Murayama1, Hideki Mochizuki1.   

Abstract

Entities:  

Year:  2021        PMID： 34484923      PMCID： PMC8382345          DOI： 10.1212/CPJ.0000000000000862

Source DB:  PubMed          Journal:  Neurol Clin Pract        ISSN： 2163-0402


× No keyword cloud information.
  7 in total

1.  Are we missing patients with biotinidase deficiency in France?

Authors:  R Deschamps; B Stankoff; C Vignal; J F Benoist; B Wolf; O Gout
Journal:  Rev Neurol (Paris)       Date:  2018-05       Impact factor: 2.607

2.  Profound biotinidase deficiency in two asymptomatic adults.

Authors:  B Wolf; K Norrgard; R J Pomponio; D M Mock; J R McVoy; K Fleischhauer; S Shapiro; M G Blitzer; J Hymes
Journal:  Am J Med Genet       Date:  1997-11-28

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

Authors:  Romain Deschamps; Julien Savatovsky; Catherine Vignal; Matthieu Fisselier; Apolline Imbard; Barry Wolf; Melinda Procter; Olivier Gout
Journal:  J Neurol Neurosurg Psychiatry       Date:  2017-10-12       Impact factor: 10.154

4.  Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome.

Authors:  E R Baumgartner; T M Suormala; H Wick; A Probst; U Blauenstein; C Bachmann; M Vest
Journal:  Pediatr Res       Date:  1989-09       Impact factor: 3.756

5.  Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood.

Authors:  Laure Bottin; Sabine Prud'hon; Stéphanie Guey; Claire Giannesini; Barry Wolf; Kirit Pindolia; Bruno Stankoff
Journal:  Mult Scler       Date:  2015-07-22       Impact factor: 6.312

6.  Biotinidase deficiency: a reversible metabolic encephalopathy. Neuroimaging and MR spectroscopic findings in a series of four patients.

Authors:  Shrinivas Desai; Karthik Ganesan; Anaita Hegde
Journal:  Pediatr Radiol       Date:  2008-06-11

7.  Neurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degeneration.

Authors:  Kirit Pindolia; Jieli Chen; Cisley Cardwell; Xu Cui; Michael Chopp; Barry Wolf
Journal:  Neurobiol Dis       Date:  2012-05-08       Impact factor: 5.996
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.