homocystinuria
SaudiVarKB evidence summary derived from retained literature mentions.
17Phenotype mentions
17Publications
2Associated gene records
9Associated variant records
Associated gene records
Co-mentioned in the same publicationsAssociated variant records
Co-mentioned in the same publications| Variant | Identifier / context | Articles | Mentions |
|---|---|---|---|
| c.969G>A | c.969G>A | 1 | 1 |
| p.Trp323X | p.Trp323X | 1 | 1 |
| p.Arg336Cys | p.Arg336Cys | 1 | 1 |
| p.Gly153Arg | p.Gly153Arg | 1 | 1 |
| p.Thr257Met | p.Thr257Met | 1 | 1 |
| 785C>G | 785C>G | 1 | 1 |
| T262R | T262R | 1 | 1 |
| IVS17 | IVS17 | 1 | 1 |
| T833C | T833C | 1 | 1 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Population record | — | 2 | 2 |
| Saudi Arabia | — | 1 | 1 |
| Saudi Arabia | Cohort 24 | 1 | 1 |
| Saudi Arabia · Jeddah | — | 1 | 1 |
| Population record | Cohort 100 | 1 | 1 |
| Saudi Arabia · Riyadh | Cohort 33 | 1 | 1 |
| Population record | Cohort 28 | 1 | 1 |
| Saudi Arabia | Cohort 13 | 1 | 1 |
| Population record | Cohort 25 | 1 | 1 |
| Saudi Arabia | Cohort 135 | 1 | 1 |
| Saudi Arabia | Cohort 20 | 1 | 1 |
| Saudi Arabia · Riyadh | Cohort 17 | 1 | 1 |
| Saudi Arabia | Cohort 910 | 1 | 1 |
Supporting publications
17 records- 2026Homocystinuria: Advances in metabolic and molecular therapies targeting homocysteine pathways (Review).Molecular medicine reports1 mentions
- 2025Clinical, 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.JIMD reports1 mentions
- 2025Incidence and risk factors of ocular complications among patients with homocystinuria in Saudi Arabia: a cross-sectional study.Annals of medicine and surgery (2012)1 mentions
- 2021The first Saudi baby with classic homocystinuria diagnosed by universal newborn screening.Saudi medical journal1 mentions
- 2021Molecular Evaluation of Exon 8 Cystathionine rs5742905T T>C Gene Polymorphism and Determination of its Frequency, Distribution Pattern, and Association with Susceptibility to Coronary Artery Disease in the North Indian Population.Cardiovascular & hematological disorders drug targets1 mentions
- 2020The Spectrum of Mutations of Homocystinuria in the MENA Region.Genes1 mentions
- 2019Homocysteine and Hyperhomocysteinaemia.Current medicinal chemistry1 mentions
- 2019Revising the Psychiatric Phenotype of Homocystinuria.Genetics in medicine : official journal of the American College of Medical Genetics1 mentions
- 2018Severe Crohn's Disease Manifestations in a Child with Cystathionine β-Synthase Deficiency.ACG case reports journal1 mentions
- 2013Retrospective review of visual outcome in operated lens subluxation.Saudi medical journal1 mentions
- 2012Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria.Clinical genetics1 mentions
- 2007Implementation of extended neonatal screening and a metabolic unit in the State of Qatar: developing and optimizing strategies in cooperation with the Neonatal Screening Center in Heidelberg.Journal of inherited metabolic disease1 mentions
- 2000Homocystinuria in the Arab population of Israel: identification of two novel mutations using DGGE analysis.Human mutation1 mentions
- 1999Classic homocystinuria: clinical, biochemical and radiological observations, and therapeutic outcome of 24 Saudi patients.Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit1 mentions
- 1998Saudi experience with classic homocystinuria.Annals of Saudi medicine1 mentions
- 1996Saudi aminoacidemias: a six-year study.Indian journal of pediatrics1 mentions
- 1992Neurometabolic diseases at a national referral center: five years experience at the King Faisal Specialist Hospital and Research Centre.Journal of child neurology1 mentions