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Fumaric aciduria: an overview and the first Brazilian case report
Fumaric aciduria is a rare metabolic disease, with 40 cases reported so far. Fumarase deficiency leads mainly to brain abnormalities, developmental delay, and great accumulation of fumaric acid inExpand
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Screening for inborn errors of metabolism in high-risk children from Rio de Janeiro, Brazil.
From 1988 to 1995, our 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 (mostly children)Expand
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Hyperargininaemia: A late-diagnosed Brazilian case with increased urinary excretion of homocystine
Hyperargininaemia: A late-diagnosed Brazilian case with increased urinary excretion of homocystine R. E. Simoni1, C. P. Honório de Oliveira1, M. J. Braga1, C. R. Gayer de Menezes1, J. C. Llerena Jr2,Expand
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Screening for hydroxyethyl starch (HES) doping in sport.
The artificial colloid hydroxyethyl starch (HES) is among the most frequently used plasma volume expanders in the medical field. However, in 1998, its misuse by the athletic community was officiallyExpand
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Systematic analysis of glycerol: colourimetric screening and gas chromatography-mass spectrometric confirmation.
Glycerol is a naturally occurring polyol in the human body, essential for several metabolic processes. It is widely used in the food, pharmaceutical, and medical industries and in clinical practiceExpand
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Alcaptonuria in a Brazilian baby
J.B.L. is a healthy girl, the first child of non-consanguineous parents, who did not want this pregnancy; a forced abortion was unsuccessful. Remaining gestation and delivery were normal. The infantExpand
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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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Non-ketotic hyperglycinemia- A typical case detected in a screening program for inborn errors of metabolism
Apresentamos um caso tipico de hiperglicinemia nao-cetotica neonatal (McKusick 23830) detectado em um programa de triagem para erros inatos do metabolismo realizado no Rio de Janeiro e confirmado porExpand
Subject Index Vol. 5, 2002