ArticleInternational journal of neonatal screening2021
Early Diagnosis of Classic Homocystinuria in Kuwait through Newborn Screening: A 6-Year Experience.
Article in International journal of neonatal screening, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Homocystinuria: Advances in metabolic and molecular therapies targeting homocysteine pathways (Review).Molecular medicine reports · 2026Review
- Insights from the Newborn Screening Program for Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency in Kuwait.International journal of neonatal screening · 2025Article
- Newborn screening for congenital hypothyroidism: worldwide coverage 50 years after its start.European thyroid journal · 2025Review
- Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Enzymatic testing for mucopolysaccharidosis type I in Kuwaiti newborns: a preliminary study toward newborn screening.Frontiers in pediatrics · 2024Article
- Precision information extraction for rare disease epidemiology at scale.Journal of translational medicine · 2023Article
- Current and Novel Therapeutical Approaches of Classical Homocystinuria in Childhood With Special Focus on Enzyme Replacement Therapy, Liver-Directed Therapy and Gene Therapy.Journal of clinical medicine research · 2023Review
- Association of selected genetic variants in CBS and MTHFR genes in a cohort of children with homocystinuria in Sri Lanka.Journal, genetic engineering & biotechnology · 2022Article
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Authors and funding
22 authors.
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Abstract
Kuwait is a small Arabian Gulf country with a high rate of consanguinity and where a national newborn screening program was expanded in October 2014 to include a wide range of endocrine and metabolic disorders. A retrospective study conducted between January 2015 and December 2020 revealed a total of 304,086 newborns have been screened in Kuwait. Six newborns were diagnosed with classic homocystinuria with an incidence of 1:50,000, which is not as high as in Qatar but higher than the global incidence. Molecular testing for five of them has revealed three previously reported pathogenic variants in the
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