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Lisbeth
Sousa Silva

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Publications (6) Lisbeth Sousa Silva publications

2020

  1. Assessing lysosomal disorders in the NGS era: Identification of novel rare variants

    International Journal of Molecular Sciences, Vol. 21, Núm. 17, pp. 1-18

  2. 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

  1. Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction

    Mitochondrion, Vol. 47, pp. 309-317

2016

  1. The need for genetic study to diagnose some cases of distal renal tubular acidosis

    Nefrologia, Vol. 36, Núm. 5, pp. 552-555

2013

  1. 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

  2. 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

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