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Fumaric aciduria: an overview and the first Brazilian case report
TLDR
This work presents the first case of fumaric aciduria described in Brazil, which presented with some interesting clinical and biochemical findings such as colpocephaly, hepatic alterations, and marked metabolic acidosis since birth. Expand
Screening for inborn errors of metabolism in high-risk children from Rio de Janeiro, Brazil.
TLDR
From 1988 to 1995, the laboratory at the Institute of Chemistry of the Federal University of Rio de Janeiro, in Rio De Janeiro, screened 2650 samples from 2000 high-risk patients for Inborn Errors of Metabolism (IEM). Expand
Hyperargininaemia: A late-diagnosed Brazilian case with increased urinary excretion of homocystine
TLDR
Hyperargininaemia: A late-diagnosed Brazilian case with increased urinary excretion of homocystine R. R. Simoni, M. M. Chaves, and P. L. Corta de Oliveira are described. Expand
Uric acid changes in urine and plasma: An effective tool in screening for purine inborn errors of metabolism and other pathological conditions
TLDR
It is demonstrated that variation of UA concentrations in urine and plasma may constitute an effective tool in screening for purine IEM and other related pathological conditions. Expand
Screening for hydroxyethyl starch (HES) doping in sport.
TLDR
A simple and low-cost screening method, intended to reduce the number of samples to be analysed by GC-MS, was developed and successfully applied for screening of HES in 2627 urine samples from Brazilian soccer players and 1281 athletes from the Pan-American Games. Expand
Systematic analysis of glycerol: colourimetric screening and gas chromatography-mass spectrometric confirmation.
TLDR
A protocol for the fast detection of glycerol in urine consists of a previous visual colourimetric screening, followed by a quantitative/qualitative confirmation analysis by mass spectrometry, and the linear correlation was demonstrated within WADA´s threshold range. Expand
Plasma volume expanders: use in medicine and detecting misuse in sports.
TLDR
An overview of plasma volume expanders is provided, assembling pertinent data such as chemical characteristics, physiological aspects, adverse effects, doping and analytical detection methods, which are currently dispersed in the literature. Expand
Monitoring of a one-month ascorbic acid therapy in an alcaptonuric child; determinations by HPLC
TLDR
Monitoring of a one-month AA supplementation of a 3-year-old Brazilian girl, with daily urine collections, determinations by HPLC, and statistical analyses of the results revealed a reduction in urinary HA concentration during the treatment. Expand
Alcaptonuria in a Brazilian baby
TLDR
The infant is white and blond like her mother, with normal psychomotor development and was referred at the age of 10 months owing to brown staining of the diapers from the neonatal period and measures showed concentrations of 4.0mg/mg creatinine in urine and 68 #mol/L in plasma. Expand
Screening for HES in human urine and possible application for dextran
This work presents the results and advantages of applying a screening method for hydroxyethyl starch (HES) doping in athletes. The screening is based on Benedict’s reaction that detects reducingExpand
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