Results 41 to 50 of about 4,846 (139)
JIMD Reports, 2019 Background Classical homocystinuria is an autosomal recessive disorder caused by profound cystathionine β‐synthase deficiency. Its biochemical hallmarks are high concentrations of plasma homocyst(e)ine and methionine. Clinical manifestations include lens
John Allen +5 more
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International Journal of Neonatal Screening, 2017 Homocystinuria (HCU) due to cystathionine-β-synthase deficiency is generally regarded as a rare disease, but within the Qatari population has an incidence of 1 in 1800 live births. Most newborn screening methods for HCU using dried blood spots (DBS) rely
Rose Maase +7 more
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The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023
Acta Ophthalmologica, EarlyView.Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg +9 more
wiley +1 more source
Radiology Case Reports, 2023 Homocystinuria is a rare genetic disease with autosomal recessive pattern. It is reported to be highest in Arabian descend and could cause thrombosis, but mainly peripherally.
Diar S. Hama-Karim, MD +5 more
doaj +1 more source
The Phenotypic and Genotypic Features of ADAMTSL4‐Related Ocular Disease
Clinical Genetics, Volume 109, Issue 4, Page 730-741, April 2026.ADAMTSL4‐related ocular disease tends to present at a younger age and be associated with higher myopia than other forms of ectopia lentis (such as FBN1). A previously reported 20‐bp deletion (c.767_786del) was highly prevalent in this cohort (23/32), and all ectopia lentis et pupillae cases carried this variant. ABSTRACT Pathogenic variants in ADAMTSL4
Katie M. Williams +14 more
wiley +1 more source
Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening
International Journal of Neonatal Screening, 2020 Background: Homocystinuria (HCU) is a rare inherited metabolic disease. In Japan, newborn screening (NBS) for HCU (cystathionine β-synthase deficiency) was initiated in 1977.
Kenji Yamada +4 more
doaj +1 more source
Case report: Spontaneous bilateral intraocular lens dislocation in a patient with homocystinuria
Frontiers in Cardiovascular Medicine, 2022 BackgroundSpontaneous bilateral intraocular lens dislocation of the vitreous cavity is a rare ocular disorder. This article aims to comprehensively describe bilateral spontaneous intraocular lens dislocation with unilateral lamellar macular hole and ...
Bangtao Yao +3 more
doaj +1 more source
Health Science Reports, Volume 9, Issue 3, March 2026.ABSTRACT Background and Aims Limited evidence suggests autoimmune thyroiditis (AT) could represent a risk factor for cervical artery dissection (CeAD). We tested the hypothesis of a positive association between AT and CeAD within 3 years following diagnosis compared to matched euthyroid controls.
Robert J. Trager +2 more
wiley +1 more source
Вопросы современной педиатрии, 2018 Homocystinuria is a genetically heterogeneous hereditary disease from the group of aminoacidopathies caused by a metabolic disorder of sulphur-containing amino acids, primarily methionine.
Alexander A. Baranov +18 more
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Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.ABSTRACT The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal
Aline Cano +108 more
wiley +1 more source