A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency-Reference-Cited by-同舟云学术

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A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency

Published:2017-03-09 Issue:3 Volume:32 Page:675-678
ISSN:0885-7490
Container-title:Metabolic Brain Disease
language:en
Short-container-title:Metab Brain Dis

Author:

Yilmaz Sanem,Serin Mine,Canda Ebru,Eraslan Cenk,Tekin Hande,Ucar Sema Kalkan,Gokben Sarenur,Tekgul Hasan,Serdaroglu Gul

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Clinical Neurology,Biochemistry

Link

http://link.springer.com/article/10.1007/s11011-017-9984-5/fulltext.html

Reference14 articles.

1. Anonymous (2011) Newborn screening programs in Turkey. Ministry of Health, Health of mother-child and family planning general management

2. Bottin L, Prud'hon S, Guey S, Giannesini C, Wolf B, Pindolia K, Stankoff B (2015) Biotinidase deficiency mimicking neuromyelitis optica: initially exhibiting symptoms in adulthood. Mult Scler 21:1604–1607

3. Cabasson S, Rivera S, Mesli S, Dulubac E (2015) Brainstem and spinal cord lesions associated with skin changes and hearing loss: think of biotinidase deficiency. J Pediatr 166:771–771

4. Dabbagh O, Brismar J, Gascon GG, Ozand PT (1994) The clinical spectrum of biotin-treatable encephalopathies in Saudi Arabia. Brain and Development 16:72–80

5. Girard B, Bonnemains C, Schmitt E, Raffo E, Bilbault C (2017) Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: a treatable disease. Mult Scler 23:119–122

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1. Atypical presentation of biotinidase deficiency: masquerading neuromyelitis optica spectrum disorder;BMJ Case Reports;2024-07

2. Démarche diagnostique devant une leucodystrophie métabolique de l’adulte;Pratique Neurologique - FMC;2024-03

3. Optic Neuropathy and Myelopathy in a Teenager With Biotinidase Deficiency;Journal of Neuro-Ophthalmology;2024-02-07

4. Ophthalmic manifestations of biotinidase deficiency: report of a case and review of literature;Ophthalmic Genetics;2024-01-17

5. Delayed Biotin Therapy in a Child with Atypical Profound Biotinidase Deficiency: Late Arrival of the Truth and a Lesson Worth Thinking;International Journal of Molecular Sciences;2023-06-16

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