Associated Papers
Pancreatitis Is an Emerging Rare Complication of Classic Homocystinuria: A Case Series and Literature Review.
Aljaberi R et al.
American Journal of Medical Genetics. Part A, 2026
Homocystinuria and ocular complications - A review.
Rahman M et al.
Indian Journal of Ophthalmology, 2022
Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients.
Wasim M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2022
Congenital cataract: An ocular manifestation of classical homocystinuria.
Saba N et al.
Molecular Genetics & Genomic Medicine, 2021
The Spectrum of Mutations of Homocystinuria in the MENA Region.
Al-Sadeq DW et al.
Genes, 2020
CBS mutations and MTFHR SNPs causative of hyperhomocysteinemia in Pakistani children.
Ibrahim S et al.
Molecular Biology Reports, 2018
Cystathionine beta-synthase mutations in homocystinuria.
Kraus JP et al.
Human Mutation, 1999
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