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Mucopolissacaridose tipo VI (Síndrome de Maroteaux Lamy): relato de caso
(2011)
Mucopolissacaridose VI (MPSVI), conhecida como Síndrome de Maroteaux-Lamy é uma doença hereditária, resultante da deficiência da enzima N-acetilgalactosamina-4-sulfatase, causando acúmulo do glicosaminoglicano Dermatan ...
Serum levels of dehydroepiandrosterone sulfate (DHEAS) in ocular toxoplasmosis
Ocular toxoplasmosis is the most common infectious cause of retinochoroidal inflammation in immunocompetent individuals and is one of the most important causes of visual damage in some countries.1 Thus, in Colombia, it is ...
Placental steroidogenesis in pregnant women with polycystic ovary syndrome
(Elsevier, 2013)
Objective: To evaluate the placental activity of steroid sulfatase (STS), 3b-hydroxysteroid dehydrogenase
type 1 (3b-HSD-1) and P450 aromatase (P450arom) in polycystic ovarian syndrome (PCOS) compared to
normal pregnant ...
EFFECT of MONENSIN ON the SULFATION of HEPARAN-SULFATE PROTEOGLYCAN FROM ENDOTHELIAL-CELLS
(Wiley-Blackwell, 1992-09-01)
Monensin is a monovalent metal ionophore that affects the intracellular translocation of secretory proteins at the level of trans-Golgi cisternae. Exposure of endothelial cells to monensin results in the synthesis of heparan ...
Desarrollo de un modelo in vitro de deficiencia constitutiva de la enzima GALNS en células estromales mesenquimales humanas mediante el uso de CRISPR-Cas9
(Bogotá - Medicina - Maestría en Genética HumanaDepartamento de MorfologíaFacultad de MedicinaBogotá, ColombiaUniversidad Nacional de Colombia - Sede Bogotá, 2022-08-19)
La mucopolisacaridosis Tipo IVA o síndrome de Morquio es una enfermedad autosómica recesiva causada por la deficiencia de la enzima N galactosamina -6- sulfatasa (GALNS), necesaria para descomponer los glucosaminoglicanos ...
Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America
(Sociedade Brasileira de Genética, 2014)
This review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis,
and management of Hunter syndrome, a serious and progressive disease for which specific treatment ...
Clinical and biochemical studies in mucopolysaccharidosis type II carriers
(SPRINGER, 2009)
The aim of the study was to characterize clinically and biochemically mucopolysaccharidosis type II (MPS II) heterozygotes. Fifty-two women at risk to be a carrier, with a mean age of 34.1 years (range 16-57 years), were ...
The first cardiac transplant experience in a patient with mucopolysaccharidosis
(ELSEVIER SCIENCE INCNEW YORK, 2012)
Hunter syndrome (MPSII) is a rare X-linked lysosomal storage disorder that can affect multiple systems but primarily affects the heart. We report the case of a previously asymptomatic 23-year-old patient who had an attenuated ...