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Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America
(Sociedade Brasileira de Genética, 2014-06-01)
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 ...
The renin–angiotensin system plays a major role in voiding dysfunction of ovariectomized rats
(Pergamon PressOxford, 2013-11-19)
Aims: The renin–angiotensin system (RAS) plays a major role in cardiovascular diseases in postmenopausal women, but little is known about its importance to lower urinary tract symptoms. In this study we have used the model ...
The renin-angiotensin system plays a major role in voiding dysfunction of ovariectomized rats
(2013-10-01)
Aims: The renin-angiotensin system (RAS) plays a major role in cardiovascular diseases in postmenopausal women, but little is known about its importance to lower urinary tract symptoms. In this study we have used the model ...
Enzyme replacement therapy for Anderson-Fabry disease: A complementary overview of a Cochrane publication through a linear regression and a pooled analysis of proportions from cohort studies
(2017-03-01)
Background Anderson-Fabry disease (AFD) is an X-linked recessive inborn error of glycosphingolipid metabolism caused by a deficiency of alpha-galactosidase A. Renal failure, heart and cerebrovascular involvement reduce ...
Higher apoptotic state in Fabry disease peripheral blood mononuclear cells: effect of globotriaosylceramide
(Elsevier Inc, 2011-11)
Fabry disease is an X-linked lysosomal storage disorder (LSD) due to deficiency of the enzyme α-galactosidase A, resulting in intracellular deposition of globotriaosylceramide (Gb3). Accumulation of Gb3 is probably related ...
Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients
(ACADEMIC PRESS INC ELSEVIER SCIENCESAN DIEGO, 2012)
Pompe disease is a genetic disorder resulting from a deficiency of lysosomal acid alpha-glucosidase (GAA) that manifests as a clinical spectrum with regard to symptom severity and rate of progression. In this study, we ...
Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment
(Sociedade Brasileira de Genética, 2010)
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of ...
Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros
(Associação Médica Brasileira, 2010)
As mucopolissacaridoses (MPS) são doenças genéticas raras causadas pela deficiência de enzimas lisossômicas específicas que afetam o catabolismo de glicosaminoglicanos (GAG). O acúmulo de GAG em vários órgãos e tecidos nos ...