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Mostrando ítems 1-10 de 65
Investigation of inborn errors of metabolismInvestigação de erros inatos do metabolismo
(HCPA/FAMED/UFRGS, 2022)
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)
Urea cycle disorders in Argentine patients: Clinical presentation, biochemical and genetic findings
(BioMed Central, 2019-08)
The incidence, prevalence, and molecular epidemiology of urea cycle disorders (UCDs) in Argentina remain underexplored. The present study is the first to thoroughly assess the clinical and molecular profiles of UCD patients ...
Hypokalemic Distal Renal Tubular Acidosis
(W B Saunders Co-Elsevier Inc, 2018-07)
Distal renal tubular acidosis (DRTA) is defined as hyperchloremic, non-anion gap metabolic acidosis with impaired urinary acid excretion in the presence of a normal or moderately reduced glomerular filtration rate. Failure ...
NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease
(Wiley Blackwell Publishing, Inc, 2018-12-07)
Lafora disease is an autosomal recessive disor-der that causes myoclonic epilepsy.The disease is char-acterized by the presence of polyglucosan inclusion bodies (Lafora bodies), predominantly in the central nervous sys-tem. ...
Insecticide resistance in vector Chagas disease: Evolution, mechanisms and management
(Elsevier Science, 2015-09)
Chagas disease is a chronic parasitic infection restricted to America. The disease is caused by the protozoa Trypanosoma cruzi, which is transmitted to human through the feces of infected triatomine insects. Because no ...