Results 61 to 70 of about 13,177 (269)
Homocystinuria presenting as a calcified right atrial mass
Annals of Pediatric Cardiology, 2018 Homocystinuria is a genetic inborn error of metabolism due to the deficiency of cystathionine β-synthase resulting in increased serum homocysteine and methionine and decreased cysteine which predisposes affected individuals to arterial and venous ...
Tahleel Altaf Shera +3 more
doaj +1 more source
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
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
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
Clinical Genetics, Volume 109, Issue 2, Page 211-217, February 2026.This review demonstrates how amniotic fluid biochemical testing provides critical phenotypic evidence (ACMG PP4) for reclassifying variants of uncertain significance (VUS) in prenatal organic acidurias. Integrating metabolite analysis with genetic testing enhances diagnostic accuracy and enables informed clinical decisions for affected families ...
Kaili Yin, Qingwei Qi
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
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
Frontiers in Neurology, 2019 Inborn errors of metabolism (IEMs) are rare group of genetic disorders comprising of more than 1,000 different types. Around 200 of IEMs are potentially treatable through diet, pharmacological and other therapies, if diagnosed earlier in life.
Muhammad Wasim +9 more
doaj +1 more source