Lisbeth
Sousa Silva
Publicacións (6) Publicacións de Lisbeth Sousa Silva
2020
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Assessing lysosomal disorders in the NGS era: Identification of novel rare variants
International Journal of Molecular Sciences, Vol. 21, Núm. 17, pp. 1-18
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Molecular characterization of a novel splicing mutation underlying mucopolysaccharidosis (MPS) type VI—Indirect proof of principle on its pathogenicity
Diagnostics, Vol. 10, Núm. 2
2019
2016
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The need for genetic study to diagnose some cases of distal renal tubular acidosis
Nefrologia, Vol. 36, Núm. 5, pp. 552-555
2013
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Acute effects of cocaine, morphine and their combination on bioenergetic function and susceptibility to oxidative stress of rat liver mitochondria
Life Sciences, Vol. 92, Núm. 24-26, pp. 1157-1164
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Mitochondrial complex I dysfunction induced by cocaine and cocaine plus morphine in brain and liver mitochondria
Toxicology Letters, Vol. 219, Núm. 3, pp. 298-306