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
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Chronic homocysteine exposure causes changes in the intrinsic electrophysiological properties of cultured hippocampal neurons [PDF]
, 2018 Homocystinuria is an inborn error of metabolism characterized by plasma homocysteine levels up to 500μM, premature vascular events and mental retardation.
Beck, Heinz +3 more
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Signalment risk factors for cutaneous and renal glomerular vasculopathy (Alabama rot) in dogs in the UK [PDF]
, 2018 Seasonal outbreaks of cutaneous and renal glomerular vasculopathy (CRGV) have been reported annually in UK dogs since 2012, yet the aetiology of the disease remains unknown. The objectives of this study were to explore whether any breeds had an increased
Cardwell, J M +5 more
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Sample Preparation for Determination of Biological Thiols by Liquid Chromatography and Electromigration Techniques [PDF]
, 2004 Wydrukowano z dostarczonych Wydawnictwu UŁ gotowych materiałówMajority of the bioanalytical or environmental methods do not use just one chromatografie or electrophoretic step, but rather involve several sample pretreatment steps which simplfy the ...
Bald, Edward
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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
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Hyperhomocysteinemia in premature arterial disease: examination of cystathionine β-synthase alleles at the molecular level [PDF]
, 2017 Hyperhomocysteinemia occurs in approximately 30% of the patients with premature occlusive arterial disease (POAD). Some of these exhibit significantly reduced fibroblast cystathionine β-synthase (CBS) activities, suggesting that they may be heterozygous ...
Boers, Godfried H.J. +6 more
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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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Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency [PDF]
, 2018 Summary: Most enzyme deficiencies in humans are inherited as autosomal recessive traits. The term dominant negative is applied to mutant alleles in which a mutant protein interferes in one way or another with the function of the normal protein being ...
Baumgartner, M.
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