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5 resultsUpdated October 20, 2026
1

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

2

A Comprehensive Study of BTD: Total Reported Variants, In-silico Analyses and Overview of Functional Studies

Indus Journal of Bioscience Research 3(10) (2025)

Qari Muhammad Iqbal; Zeenia Iqbal; Samreen Iqbal; Muhammad Talha Aftab; Areesha Rashid

3

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

4

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

5

Atypical presentation of biotinidase deficiency: masquerading neuromyelitis optica spectrum disorder

BMJ Case Reports 17(7) (2024)

Farhan Ali; Khairunnisa Mukhtiar; Mohammad Raza; Shahnaz Ibrahim