Associated Papers
Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary center experience.
Mohamed AS et al.
Jimd Reports, 2025
Early Diagnosis of Classic Homocystinuria in Kuwait through Newborn Screening: A 6-Year Experience.
Alsharhan H et al.
International Journal of Neonatal Screening, 2021
The first Saudi baby with classic homocystinuria diagnosed by universal newborn screening.
AlAnzi T et al.
Saudi Medical Journal, 2021
Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases.
Weber Hoss GR et al.
Molecular Genetics & Genomic Medicine, 2020
The Spectrum of Mutations of Homocystinuria in the MENA Region.
Al-Sadeq DW et al.
Genes, 2020
CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.
Poloni S et al.
Molecular Genetics & Genomic Medicine, 2018
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
SNP variation in the promoter of the PRKAG3 gene and association with meat quality traits in pig.
Ryan MT et al.
Bmc Genetics, 2012
Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria.
Zaidi SH et al.
Clinical Genetics, 2012
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