Brainstem and Spinal Cord Lesions Associated with Skin Changes and Hearing Loss: Think of Biotinidase Deficiency
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology and Child Health
Reference5 articles.
1. Spinal cord demyelination associated with biotinidase deficiency in three Chinese patients;Yang;J Child Neurol,2007
2. Biotinidase deficiency: clinical and MRI findings consistent with myelopathy;Wiznitzer;Pediatr Neurol,2003
3. A girl with spastic tetraparesis associated with biotinidase deficiency;Komur;Eur J Paediatr Neurol,2011
4. Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency;Wolf;J Pediatr,2002
5. The inherited ataxias;Stumpf;Pediatr Neurol,1985
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1. Neuroimaging Features of Biotinidase Deficiency;American Journal of Neuroradiology;2023-02-09
2. A Girl with Myelopathy and Vision Loss, Misdiagnosis as Neuromyelitis Optica Spectrum Disorder: The First Iranian Case Report on Biotinidase Deficiency;IRAN J PEDIATR;2022
3. 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;Frontiers in Pediatrics;2022-02-21
4. Alterações auditivas e deficiência de biotinidase: revisão integrativa da literatura;Revista CEFAC;2022
5. Hearing disorders and biotinidase deficiency: an integrative literature review;Revista CEFAC;2022
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