Results 1 to 10 of about 8,730 (170)

Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]

, 2015
Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz, CONTESTABILE, Maria Teresa, FAMELI, VALERIA, Mollo, Roberto, Perdicchi, Andrea, RECUPERO, Santi Maria   +5 more
core   +7 more sources

Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence. [PDF]

, 2020
CBS deficient individuals undergoing betaine supplementation without sufficient dietary methionine restriction can develop severe hypermethioninemia and brain edema. Brain edema has also been observed in individuals with severe hypermethioninemia without
Barea, Jaime J, Barshop, Bruce A, Benoist, Jean-Francois, Blom, Henk J, Das, Anibh M, Feigenbaum, Annette, Fletcher, Janice, Scheffner, Thomas, Schwahn, Bernd C, Stepman, Hedwig, Verloo, Peter   +10 more
core   +1 more source

Gene identification for the cblD defect of vitamin B12 metabolism [PDF]

, 2008
Background Vitamin B12 (cobalamin) is an essential cofactor in several metabolic pathways. Intracellular conversion of cobalamin to its two coenzymes, adenosylcobalamin in mitochondria and methylcobalamin in the cytoplasm, is necessary for the ...
Baumgartner, M R, Coelho, D, Fowler, B, Lerner-Ellis, J P, Newbold, R F, Rosenblatt, D S, Stucki, M, Suormala, T   +7 more
core   +1 more source

Endoplasmic reticulum stress and autophagy in homocystinuria patients with remethylation defects [PDF]

, 2016
Proper function of endoplasmic reticulum (ER) and mitochondria is crucial for cellular homeostasis, and dysfunction at either site as well as perturbation of mitochondria-associated ER membranes (MAMs) have been linked to neurodegenerative and metabolic ...
Desviat, Lourdes R., Martínez-Pizarro, Ainhoa, Pérez, Belén, Richard, Eva, Ugarte, Magdalena   +4 more
core   +2 more sources

Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula [PDF]

, 2015
Acessível em: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375120/Homocystinuria due to cystathionine β-synthase deficiency or "classical homocystinuria" is a rare autosomal recessive condition resulting in altered sulfur metabolism with elevated ...
E Martins, FD Testai, G Sebastio, H Gan-Schreier, M Cozar, M Furujo, M Meier, M Nagao, ME Chamberlin, ME Chamberlin, ME Chamberlin, ML Couce, MM Rebollido-Fernandez, MS Rashed, PM Gallagher, R Banerjee, R Castro, R Urreitzi, R Urreizti, S Chadwick, S Stabler, S Tortorelli, SH Mudd, SH Mudd, SJ Moat, Y Chien   +25 more
core   +1 more source

Effect of Combination Folic Acid, Vitamin B6 , and Vitamin B12 Supplementation on Fracture Risk in Women: A Randomized, Controlled Trial. [PDF]

, 2017
Epidemiologic studies have demonstrated an association of elevated plasma homocysteine levels with greater bone resorption and fracture risk. Vitamins B12 , B6 , and folic acid are cofactors in homocysteine metabolism, and supplementation with B vitamins
Bauer, Douglas C, Christen, William G, Cummings, Steven R, Kado, Deborah, Lui, Li-Yung, Manson, JoAnn E, Schambach, Christopher, Stone, Katie L, Troen, Aron M   +8 more
core   +1 more source

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, Anselmi, G, Calafiore, S, Lambiase, A, Mannino, C, Mannino, G   +5 more
core   +2 more sources

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, Andersson A, Bagi Z, Bellamy MF, Chambers JC, Chambers JC, Chao CL, Flohé L, Forgione MA, Guttormsen AB, Huang R-FS, Kanani PM, Karlsson K, Lang D, Lentz SR, Mansoor MA, Mansoor MA, Mansoor MA, Mansoor MA, O'Donnell VB, Outinen PA, Pritchard, Rubbo H, Tawakol A, Ungvari Z, Weiss N, Wilcken DE, Woo KS, Zhang F, Zhang X   +29 more
core   +1 more source

Maternal BMI as a predictor of methylation of obesity-related genes in saliva samples from preschool-age Hispanic children at-risk for obesity. [PDF]

, 2017
BackgroundThe study of epigenetic processes and mechanisms present a dynamic approach to assess complex individual variation in obesity susceptibility. However, few studies have examined epigenetic patterns in preschool-age children at-risk for obesity ...
Barkin, Shari L, Guo, Yan, Non, Amy L, Oelsner, Kathryn Tully, To, Sophie Bao-Chieu   +4 more
core   +2 more sources

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, David, Larry L, De Maria, Alicia, Wilmarth, Phillip A   +3 more
core   +2 more sources