Population record
Saudi Arabia · 4 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| population | Saudi Arabia | “Clinical and molecular characterization of a large primary hyperoxaluria cohort from Saudi Arabia: a retrospective study. METHODS: A retrospective study was conducted for patients with confirmed PH diagnoses from three tertiary centers in Saudi Arabia. Detailed clinical molecular diagnosis was performed for 25 affected individuals. RESULTS: The male:female ratio was 52% male (n = 13) and 48% female (n = 12), and consanguinity was present in 88%.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. Homozygosity mapping with a DNA pooling strategy in three large consanguineous Saudi PCG families identified the GLC3A locus on chromosome 2p21 in a region tightly linked to PCG in another population. Formal linkage analysis in 25 Saudi PCG families confirmed both significant linkage to polymorphic markers in this region and incomplete penetrance, but it showed no evidence of genetic heterogeneity. Furthermore, the small number of PCG mutations identified in this Saudi population makes both neonatal and population screening attractive public health measures.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Congenital adrenal hyperplasia in a referral hospital in Saudi Arabia: Epidemiology, pattern and clinical presentation. The consanguinity rate was high (71.2%) and positive family history was documented in 45.8%. Thirty-nine infants deaths occurred within 25 families.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Werdnig Hoffman's disease (spinal muscular atrophy type I): A clinical study of 25 Saudi nationals in Al-Khobar. We describe the clinical features of 25 cases of Werdnig Hoffman's disease (spinal muscular atrophy (SMA) type I) seen propectively over a two-year period at the King Fahd Hospital of the University (KFHU), Al-Khobar. The parents were consanguineous in 64% of the cases. This high consanguinity rate was probably the major cause for the high population prevalence rate.” | 0.95 | saudi_context_rules_v1 |