Results 111 to 120 of about 10,319 (231)
Homocysteine levels and the risk of osteoporotic fracture [PDF]
, 2004 BACKGROUND: Very high plasma homocysteine levels are characteristic of homocystinuria, a rare autosomal recessive disease accompanied by the early onset of generalized osteoporosis.
Breteler, M.M.B. (Monique) +13 more
core
Novel Compound Heterozygous CBS Mutations Cause Homocystinuria in a Han Chinese Family [PDF]
, 2015 Bo Gong +15 more
openalex +1 more source
Classical homocystinuria, is it safe to exercise?
, 2021 Aurel T. Tankeu +7 more
openalex +1 more source
ON THE ROLE OF CYSTATHIONINE-γ-LYASE IN MODULATING TRANSSULFURATION PATHWAY IN THE LENS [PDF]
In Mammals transsulfuration pathway enables the conversion of homocysteine (Hcy), deriving from methionine (Met) transmetilation, into cysteine (Cys) through two steps, the first catalyzed by cystathionine β-synthase (CBS) and the second one by ...
CALVANI, ENRICA
core
Natural history, with clinical, biochemical, and molecular characterization of classical homocystinuria in the Qatari population [PDF]
, 2019 Nader Al‐Dewik +20 more
openalex +1 more source
Revista Cubana de Medicina, 2003 La homocisteína y su metabolismo han sido objeto de estudios, desde la década de los 60, se ha considerado la relación existente entre ella y el desarrollo de aterosclerosis y enfermedades vasculares.
Liván Rodríguez Mutuberría +2 more
doaj
Postprandial changes of amino acid and acylcarnitine concentrations in dried blood samples [PDF]
, 2018 Blood sampling for newborn screening cannot be standardized as for example blood collection in adults after an overnight fast. Therefore the influence of postprandial changes and individual variation is valuable information for the assessment of ...
Baumgartner, Matthias +8 more
core
Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduria [PDF]
, 2019 Elvira Grandone +8 more
openalex +1 more source