Buscar
Mostrando ítems 21-30 de 381
Prevalence of the Glycogen Branching Enzyme Deficiency Mutation in Quarter Horses in Brazil
(Elsevier B.V., 2018-03-01)
Glycogen branching enzyme deficiency (GBED) is a fatal autosomal inherited disease affecting horses and caused by a nonsense mutation (c.102C>A) in the GBE1 gene. This disease strongly impairs the glycogen metabolism of ...
Influence of BDNF Genetic Polymorphisms in the Pathophysiology of Aging-related Diseases
(Int Soc Aging & Disease, 2020)
For the first time in history, most of the population has a life expectancy equal or greater than 60 years. By the year 2050, it is expected that the world population in that age range will reach 2000 million, an increase ...
Mucopolysaccharidoses in Brazil: What happens from birth to biochemical diagnosis?
(WILEY-LISS, 2008)
Mucopolysaccharidoses (MPS) form a group of inherited metabolic disorders characterized by intralysosomal storage of glycosaminoglycans. This study aimed to investigate the path followed by Brazilian patients from birth ...
A soluble phosphorylated tau signature links tau, amyloid and the evolution of stages of dominantly inherited Alzheimer’s disease
(Nature Publishing Group, 2020-03)
Development of tau-based therapies for Alzheimer’s disease requires an understanding of the timing of disease-related changes in tau. We quantified the phosphorylation state at multiple sites of the tau protein in cerebrospinal ...
BPAN manifesting with febrile seizures and language delay:a case report from Brazil
(HCPA/FAMED/UFRGS, 2021)
Lactate dehydrogenase activity is inhibited by methylmalonate in vitro
(Springer/plenum PublishersNew YorkEUA, 2006)