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Homocisteína y polimorfismos de cistationina β sintasa y metilentetrahidrofolato reductasa en población sana de Colombia
Introduccion: Durante los ultimos anos la hiperhomocisteinemia moderada (>17 mM) y la presencia de las variantes polimorficas de los genes comprometidos en el metabolismo de la metionina, como laExpand
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Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients.
Adenylosuccinate lyase deficiency is an autosomal recessive defect of purine metabolism. Succinyladenosine (S-Ado) and succinylaminoimidazole carboxamide riboside (SAICAr) are the disease markerExpand
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The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America
AbstractClassical homocystinuria is due to cystathionine β-synthase (CBS) deficiency. More than 130 mutations, which differ in prevalence and severity, have been described at the CBS gene. MutationExpand
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[Homocysteine levels and polymorphisms of MTHFR and CBS genes in Colombian patients with superficial and deep venous thrombosis].
INTRODUCTION Thrombosis develops when the hemostatic system is incorrectly activated due to the unbalance between procoagulant, anticoagulant and fibrinolytic mechanisms allowing the formation of aExpand
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N-palmitoylphosphatidylethanolamine stabilizes liposomes in the presence of human serum: effect of lipidic composition and system characterization.
Liposomes containing negatively-charged phospholipid, N-palmitoylphosphatidylethanolamine (NPPE) were examined for stability in the presence of human serum, using the release of the entrappedExpand
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High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia
Homocystinuria is an autosomal recessive disease most commonly caused by mutations in cystathionine β‐synthase (CBS). In this study we present the mutation analysis of 36 Colombian individuals fromExpand
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Crystalline structure and crystallization of stereoisomeric polyamides derived from arabinaric acid
Abstract The pair of stereoisomeric polyamides PA-6 d Ar and PA-6 l Ar, as well as the racemic stereocopolyamide PA-6 dl Ar was synthesized from hexamethylenediamine and 2,3,4-tri- OExpand
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The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America
In this article, one of the novel mutations, c.208_209+ 8del10, was incorrectly given as c.69_70+8del10. It corresponds to patient 64 in Table 4.
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Crystallization studies on linear aliphatic polyamides derived from naturally occurring carbohydrates
The thermal behavior of three series of sugar-derived polyamides (PA-nSu) made from the arabinaric, mannaric and galactaric acids, respectively, and α,ω-alkanediamines containing from 6 to 12Expand
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