Publicacións nas que colabora con Sofía Barbosa Gouveia (11)

2024

  1. A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up

    Orphanet Journal of Rare Diseases, Vol. 19, Núm. 1

  2. Clinical and biochemical evolution after partial dietary liberalization of two cases of galactosemia due to galactose mutarotase deficiency

    BMC Pediatrics, Vol. 24, Núm. 1

2023

  1. Maturity-onset diabetes of the young in a large Portuguese cohort

    Acta Diabetologica, Vol. 60, Núm. 1, pp. 83-91

2022

  1. Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies

    Journal of Clinical Medicine, Vol. 11, Núm. 10

  2. Transcriptomic analysis of patients with clinical suspicion of maturity-onset diabetes of the young (MODY) with a negative genetic diagnosis

    Orphanet journal of rare diseases, Vol. 17, Núm. 1, pp. 105

2021

  1. Characterization of a novel splicing variant in acylglycerol kinase (Agk) associated with fatal sengers syndrome

    International Journal of Molecular Sciences, Vol. 22, Núm. 24

2018

  1. Ngs technologies as a turning point in rare disease resea rch , diagnosis and treatment

    Current Medicinal Chemistry, Vol. 25, Núm. 3, pp. 404-432

  2. Prioritization of variants detected by next generation sequencing according to the mutation tolerance and mutational architecture of the corresponding genes

    International Journal of Molecular Sciences, Vol. 19, Núm. 6

2017

  1. Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations

    Journal of Human Genetics, Vol. 62, Núm. 2, pp. 185-189

  2. Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement

    Neuromuscular Disorders, Vol. 27, Núm. 2, pp. 188-192

2014

  1. Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

    Orphanet Journal of Rare Diseases, Vol. 9, Núm. 1