Results 41 to 50 of about 10,319 (231)
Proteomic analysis of the bovine and human ciliary zonule [PDF]
, 2016 PURPOSE: The zonule of Zinn (ciliary zonule) is a system of fibers that centers the crystalline lens on the optical axis of the eye. Mutations in zonule components underlie syndromic conditions associated with a broad range of ocular pathologies ...
Bassnett, Steven +3 more
core +2 more sources
Bilateral Internal Carotid Artery Occlusion Due To Homocystinuria: Case Report
Türk Nöroloji Dergisi, 2011 The damage mechanism of homocystinuria which occurs due to cystationine β-synthase deficiency, is not known. However it is proposed that transmetilation disorders and NMDA mediated excitotoxicity cause endothelial damage thereby leading to vascular ...
Derya Yavuz Demiray +3 more
doaj +2 more sources
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
doaj +1 more source
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
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
doaj +1 more source
Impairment of energy metabolism in hippocampus of rats subjected to chemically-induced hyperhomocysteinemia [PDF]
, 2003 Homocystinuria is an inherited metabolic disease biochemically characterized by tissue accumulation of homocysteine (Hcy). Mental retardation, ischemia and other neurological features, whose mechanisms are still obscure are common symptoms in ...
Streck, Emilio L +6 more
core +1 more source
The Phenotypic and Genotypic Features of ADAMTSL4‐Related Ocular Disease
Clinical Genetics, EarlyView.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
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 p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America [PDF]
, 2006 Classical homocystinuria is due to cystathionine beta-synthase (CBS) deficiency. More than 130 mutations, which differ in prevalence and severity, have been described at the CBS gene.
Asteggiano, Carla +18 more
core +1 more source