Ophthalmic manifestations of biotinidase deficiency: report of a case and review of literature-Reference-Cited by-同舟云学术

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

Published:2024-01-17 Issue:2 Volume:45 Page:120-125
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Abdi Fatemeh¹,Parvin Sadaf²,Zare Hosseinabadi Vahid¹,Kachuei Maryam³,Gordiz Arzhang¹,Hemmati Sara¹,Karimzadeh Parvaneh⁴

Affiliation:

1. Department of Ophthalmology, Eye Research Center, The Five Senses Institute, Rassoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran

2. School of Medicine, Iran University of Medical Sciences, Tehran, Iran

3. Department of Pediatric Neurology, Firoozabadi Clinical Research Development Unit(FACRDU), Iran University of Medical Sciences, Tehran, Iran

4. Pediatric Neurology Department, Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran

Funder

research did not receive any specific

Publisher

Informa UK Limited

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2023.2296921

Reference33 articles.

1. Wolf B, Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. Biotinidase deficiency. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, et al., editors. GeneReviews(®). Seattle (WA):University of Washington, Seattle; 1993, p. 12.

2. Biotinidase deficiency: “if you have to have an inherited metabolic disease, this is the one to have”

3. Inborn errors of biotin metabolism. Clinical and laboratory features of eight cases;Coşkun T;Turk J Pediatr,1994

4. Saleem H, Simpson B. Biotinidase deficiency. StatPearls. Treasure Island (FL): StatPearls Publishing; 2023.

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