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Efficacy of pentosan polysulfate in in vitro models of lysosomal storage disorders: Fabry and Gaucher Disease
(Public Library of Science, 2019-05-31)
Gaucher and Fabry diseases are the most prevalent sphingolipidoses. Chronic inflammation is activated in those disorders, which could play a role in pathogenesis. Significant degrees of amelioration occur in patients upon ...
Sanfilippo Type B disease: A diagnostic approach through enzymatic and molecular analysis in Colombia
(Universidad de los AndesMaestría en Ciencias BiológicasFacultad de CienciasDepartamento de Ciencias Biológicas, 2021)
Glycosaminoglycan metabolism disorders bring together a group of alterations of genetic origin whose effect is the progressive intralysosomal accumulation of GAGs. Affected individuals are compromised in a multisystemic ...
Implementação e padronização de técnicas de dosagem enzimática para detecção de doenças de depósito lisossômico
(Universidade Federal de São Paulo (UNIFESP), 2009-02-27)
Objectives: To implement and to standardize enzymatic activity techniques using dried blood spots on filter paper for the enzymes -galactosidase A, for the diagnosis of Fabry Disease patients; -iduronidase, for the ...
Identificación de mutaciones en el Gen Iduronato 2 sulfatasa (IDS) en pacientes colombianos con Síndrome de Hunter
(2013)
El Síndrome de Hunter o Mucopolisacaridosis II es una enfermedad ligada X heredada, causada por mutaciones en iduronato 2 sulfatasa (IDS). Esta enzima cataliza la etapa inicial de la degradación de heparán y dermatán ...
PERFIL VENTILATÓRIO E CAPACIDADE FUNCIONAL DE PACIENTES COM MUCOPOLISSACARIDOSES
(Instituto de Ciências da SaúdeProcessos Interativos dos Órgãos e SistemasICSbrasil, 2015-07-17)
INTRODUÇÃO: as mucopolissacaridoses (MPS) são um grupo de doenças raras causadas
pelo acúmulo intralisossômico de glicosaminoglicanos, secundário a deficiências enzimáticas
específicas. O comprometimento respiratório e ...
Caracterización de reacciones adversas de medicamentos derivados de enzimas ocurridas en Bogotá D. C. durante el periodo 2008-2018
(Bogotá : Universidad de Ciencias Aplicadas y Ambientales, 2019Facultad de CienciasQuímica Farmacéutica, 2019)
One of the most important advances in modern medicine is the development of molecular biology with an emphasis on genetics, the advance has been so important that today enzymes can be isolated, such as agalsidase Alfa, ...