ArticleInternational journal of neonatal screening2024
Incidence of Inborn Errors of Metabolism and Endocrine Disorders Among 40965 Newborn Infants at Riyadh Second Health Cluster of the Ministry of Health Saudi Arabia.
Article in International journal of neonatal screening, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Newborn Screening of Primary Carnitine Deficiency and Prenatal Genetic Diagnosis for a Recurrence-Risk Family.Molecular genetics & genomic medicine · 2026Article
- Newborn Screening in Saudi Arabia: Brief History, Current Practice, and Future Direction.International journal of neonatal screening · 2026Review
- Nutritional knowledge of the phenylketonuria diet among healthcare providers in Saudi Arabia.Saudi medical journal · 2025Article
- Improving newborn screening accuracy through genome sequencing, targeted metabolomics, and machine learning.BMC medical genomics · 2025Article
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Authors and funding
8 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Inborn errors of metabolism (IEM) and endocrine disorders are common genetic conditions in the Saudi population with the incidence rate often underestimated. Newborn screening (NBS) using various disease panels provides the first line in the early detection and intervention among infants with a high risk of IEM. Here we aim to assess the incidence of screening disorders and provide an overview of the NBS program at the Ministry of Health Tertiary Care King Fahad Medical City. Dried blood spots (DBS) from 40,965 newborn infants collected on the second day after birth were analyzed for 20 disorders. The total number of positive screen ("repeat") samples over 10 years was about 1% (
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