Results 81 to 90 of about 10,319 (231)
Food Science &Nutrition, Volume 13, Issue 7, July 2025.Neurotoxicity of Hcy. (A figure that best represents the scope of the paper.) Homocysteine can reduce the tightness of endothelial cell connections, increase vascular permeability, and damage the blood–brain barrier. Homocysteine activates various glutamate receptors on the surfaces of neurons and glial cells, triggering excitotoxicity, promoting the ...
Bin Li, Yushun Kou, Lingna Zhang, Lin Yi
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Inborn errors of metabolism: a clinical overview [PDF]
, 1999 CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
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Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study
Journal of Diabetes Investigation, Volume 16, Issue 7, Page 1263-1273, July 2025.Previous studies have identified pathogenic variants in 22% of Caucasian patients with diabetic kidney disease (DKD); however, this proportion may vary depending on ethnicity and updates to the database. Whole‐genome sequencing of 79 patients with DKD in Japan revealed that 34.1% had kidney‐related heterozygous pathogenic variants, and 12.7% had ...
Toyohiro Hashiba +5 more
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A review of the role of ultrasound biomicroscopy in glaucoma associated with rare diseases of the anterior segment [PDF]
, 2016 Ultrasound biomicroscopy is a non-invasive imaging technique, which allows high-resolution evaluation of the anatomical features of the anterior segment of the eye regardless of optical media transparency.
Abdolrahimzadeh, B +5 more
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JIMD Reports, Volume 66, Issue 3, May 2025.ABSTRACT In this report, we present the case of a 16‐month‐old patient who was diagnosed with cobalamin G deficiency at 4 months of age via whole exome sequencing by detecting compound heterozygous variants of uncertain significance (VUS) in the MTR gene: (1) c.1283T>A, p.Met428Lys; (2) c.2411T>C, p.Ile804Thr. Before the diagnosis, the initial clinical
Chi‐Tang Wu +3 more
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Bulletin of the National Research CentreBackground Thrombophilia is characterised by an abnormality of blood coagulation that increases thrombosis. Homocystinuria encompasses a group of disorders marked by increased levels of homocysteine and other amino acids detectable in the bloodstream and
Poojitha Tulasi +3 more
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Influence of hyperhomocysteinemia on the cellular redox state - Impact on homocysteine-induced endothelial dysfunction [PDF]
, 2003 Hyperhomocysteinemia is an independent risk factor for the development of atherosclerosis. An increasing body of evidence has implicated oxidative stress as being contributory to homocysteines deleterious effects on the vasculature.
Adachi T +29 more
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A case series of Pyridoxine Resistant Classical Homocystinuria
Sri Lanka Journal of Diabetes Endocrinology and Metabolism, 2019 Homocystinuria is an autosomal recessive disorder with the prevalence of 1;200000. It is due to the defect in the Methionine metabolism which results in accumulation of Homocysteine in the body. We report a series of patients with Homocystinuria followed
Imalke Kankananarachchi +3 more
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Causes of and diagnostic approach to methylmalonic acidurias [PDF]
, 2018 Summary: Several mutant genetic classes that cause isolated methylmalonic acidurias (MMAuria) are known based on biochemical, enzymatic and genetic complementation analysis. The mut0 and mut− defects result from deficiency of MMCoA mutase apoenzyme which
Baumgartner, M., Fowler, B., Leonard, J.
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