Biotinidase deficiency presenting as Neuromyelitis Optica Spectrum Disorder

Author:

Shah Snehal,Khan Najm,Lakshmanan Rahul,Lewis Barry,Nagarajan Lakshmi

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health

Reference11 articles.

1. Wolf B. Biotinidase Deficiency. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., editors. GeneReviews((R). Seattle (WA): University of Washington, Seattle University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.; 1993.

2. Clinical issues and frequent questions about biotinidase deficiency;Wolf;Mol Genet Metab,2010

3. Spinal cord demyelination associated with biotinidase deficiency in 3 Chinese patients;Yang;J Child Neurol,2007

4. Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss;Wolf;Mol Genet Metab,2015

5. Biotinidase deficiency mimicking neuromyelitis optica: initially exhibiting symptoms in adulthood;Bottin;Mult Scler,2015

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