Results 71 to 80 of about 13,177 (269)
Three Main Causes of Homocystinuria: CBS, cblC and MTHFR Deficiency. What do they Have in Common?
Journal of Inborn Errors of Metabolism and Screening, 2019 Genetic homocystinurias are a group of inborn errors of metabolism that result in the massive excretion of homocysteine (Hcy) in the urine due to Hcy accumulation in the body, usually causing neurological and cardiovascular complications.
Giovana Regina Weber Hoss +3 more
semanticscholar +1 more source
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT Undoubtedly the nutritional management of inborn errors of protein metabolism (IEPM) has improved since the early 1950s, but it is still associated with significant patient burden. The pace of development has not kept up with the increasing demands of the ‘real world’ or development in other areas of medicine. It is essential that research and
Júlio César Rocha +2 more
wiley +1 more source
Analytical Science Advances, Volume 6, Issue 2, December 2025.ABSTRACT Bridging the gap between microsampling techniques and standard blood matrices presents a groundbreaking opportunity in metabolic biomarker analysis, offering minimally invasive, patient‐centric alternatives to traditional venipuncture. This review presents the current knowledge obtained from the comparison of biomarkers analysis in liquid ...
Marlene Thaitumu +3 more
wiley +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
Homocystinuria, a Possible Solution of the Akhenaten’s Mystery [PDF]
, 2010 Pharaoh Amenophis IV (Amenhotep IV), also known as Akhenaten, is the most mysterious person in Egyptian history and he still remains the object of academic argues. This revolutionary king introduced a new concept in Egyptian religion and arts.
Boris Brkljačić +5 more
core +1 more source
Manifestaciones esqueléticas en la homocistinuria: a propósito de un caso [PDF]
, 1994 Se presenta el caso de una niña de 13 años con homocistinuria en la que se describen las alteraciones esqueléticas, haciendo especial énfasis en las encontradas en el raquis, donde además de osteoporosis, ensanchamientos discales no uniformes y las ...
Castejón, M. +2 more
core
Journal of Neurochemistry, Volume 169, Issue 12, December 2025.Elevated homocysteine results from genetic variants, impaired one‐carbon metabolism, nutritional deficiencies, and metabolic disorders. Hyperhomocysteinemia drives oxidative stress, inflammation, excitotoxicity, and epigenetic disruption, affecting multiple organs and systems.
Osmar Vieira Ramires Júnior +5 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
Clinical management of homocystinuria; case report and review of the literature [PDF]
, 2012 La homocistinuria es un error congénito del metabolismo de la metionina que conduce al acúmulo de metionina y de su principal metabolito, homocisteína, en plasma, orina y tejidos.
Díaz Guardiola, Patricia +5 more
core +2 more sources
Food Science &Nutrition, Volume 13, Issue 10, October 2025.This study investigated the protective effect of betaine (BTN) against paclitaxel (PTL)‐induced liver injury in rats. The results showed that betaine reduced PTL‐induced liver injury by improving antioxidant levels, reducing inflammation, apoptosis, and regulating autophagy.
Esmaeel Babaeenezhad +5 more
wiley +1 more source