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Atypical presentation of biotinidase deficiency: masquerading neuromyelitis optica spectrum disorder

BMJ Case Reports 17(7) (2024)

Farhan Ali; Khairunnisa Mukhtiar; Mohammad Raza; Shahnaz Ibrahim

Biotinidase Deficiency: Report of a Tunisian Case With Neuromyelitis Optica‐Like Presentation and Review of the Literature

Case Reports in Neurological Medicine 2025(1) (2025)

Abir Zioudi; Hanene Benrhouma; Maha Jamoussi; Thouraya Ben Younes; Zouhour Miladi; Hedia Klaa; Sonia Nagi; Brahim Tabarki; Ilhem Ben Youssef Turki; Ichraf Kraoua; Isabella Laura Simone

Longitudinally Extensive Transverse Myelitis with Optic Neuritis Related to Profound Biotinidase Deficiency: NMOSD Mimic!

Annals of Indian Academy of Neurology 26(5) (2023)

Nagaraj Angadi Ravikumar; Debjyoti Dhar; Rohan Mahale; Ambati Mounika Reddy; Athyadi U. Shreedevi; Sameetha Prabhu; Jitender Saini; Rita Christopher; Pooja Mailankody; Mathuranath PS; Hansashree Padmanabha

Biotinidase Deficiency Induced Optic Neuropathy: A Case Report and Literature Review

Neuro-Ophthalmology 49(3) (2025)

Angela A. Cao; Meghan M. Brown; Michael S. Lee; Anita M. Rashidi; Vania Rashidi

Screening for Biotinidase deficiency in children with spinal cord demyelination

Multiple Sclerosis and Related Disorders 107 (2026)

Maha Mohammed; Iman EL Agouza; Raghda Zaitoun; Khaled Ahmad; Shaimaa Mohammad; Ola Sallam; Hoda Tomoum