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6 resultsUpdated October 24, 2026

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1

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

2

Ophthalmic manifestations of biotinidase deficiency: report of a case and review of literature

Ophthalmic Genetics 45(2) (2024)

Fatemeh Abdi; Sadaf Parvin; Vahid Zare Hosseinabadi; Maryam Kachuei; Arzhang Gordiz; Sara Hemmati; Parvaneh Karimzadeh

3

Atypical presentation of biotinidase deficiency: masquerading neuromyelitis optica spectrum disorder

BMJ Case Reports 17(7) (2024)

Farhan Ali; Khairunnisa Mukhtiar; Mohammad Raza; Shahnaz Hamid Ibrahim

4

Identification of the mutations in BTD gene in Iranian patients with biotinidase deficiency and evaluating their genotype-phenotype correlations

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Fatemeh Azizinejad; Majid Aminzadeh; Maryam Tahmasebi Birgani; Solmaz Heidari; Pegah Ghandil

5

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; Hanène Benrhouma; Maha Jamoussi; Thouraya Ben Younes; Zouhour Miladi; Hédia Klaa; Sonia Nagi; Brahim M. Tabarki; Ilhem Ben Youssef-Turki; Ichraf Kraoua

6

Screening for Biotinidase deficiency in children with spinal cord demyelination

Multiple Sclerosis and Related Disorders 107 (2025)

Maha Mohammed; Iman Ali Abdelhamid Elagouza; Raghda Mohamed Hesham Zaitoun; Khaled A. Ahmad; Shaimaa Abdelsattar Mohammad; Ola Sallam; Hoda Yahya Tomoum