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Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency
It is demonstrated that timely diagnosis in neurologically asymptomatic patients followed by treatment with l-carnitine and a lysine-restricted diet was the best predictor of good outcome, whereas treatment efficacy was low in patients diagnosed after the onset of neurologic disease.
Inborn Errors of Metabolism
The sensitivity of a screening procedure for inborn errors of metabolism (IEM) in 566 referred, high-risk patients and the simple inclusion of thin-layer chromatography of urinary oligosaccharides in the SP should allow the detection of at least one half of these cases, increasing its sensitivity by 14.1 percent and its efficiency by 4.6 percent.
Inhibition of the mitochondrial respiratory chain complex activities in rat cerebral cortex by methylmalonic acid
Selective screening of 10,000 high-risk Brazilian patients for the detection of inborn errors of metabolism
- J. Coelho, M. Wajner, M. Burin, C. Vargas, R. Giugliani
- MedicineEuropean Journal of Pediatrics
- 25 July 1997
This study shows that the establishment of reference centres for the investigation of rare genetic diseases is a suitable approach to the study of inborn errors of metabolism in developing countries such as Brazil.
Mitochondrial dysfunction in fatty acid oxidation disorders: insights from human and animal studies
Patients affected by FAOD commonly present with hepatopathy, cardiomyopathy, skeletal myopathy and encephalopathy, suggesting that lipotoxicity may contribute to their pathogenesis.
A chemically-induced acute model of maple syrup urine disease in rats for neurochemical studies
Methylmalonate administration decreases Na+,K+‐ATPase activity in cerebral cortex of rats
Na+, K+-ATPase and Mg2+- ATPase activities were determined in the synaptic plasma membranes from cerebral cortex of rats, and MMA at final concentrations ranging from 0.1 to 2.0 mM had no in vitro effect on these enzyme activities.
An overview of L‐2‐hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype–phenotype study
Thirty‐five novel mutations as well as 35 reported mutations and 14 nondisease‐related variants are reviewed and included in a novel Leiden Open source Variation Database (LOVD) for L2HGDH variants (http://www.LOVd.nl/L2HgDH).
In vitro phosphorylation of cytoskeletal proteins from cerebral cortex of rats.