Publications by the researcher in collaboration with Ana Fernández Marmiesse (9)

2019

  1. A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy

    Seizure, Vol. 71, pp. 161-165

2018

  1. Carbohydrate status in patients with phenylketonuria

    Orphanet Journal of Rare Diseases, Vol. 13, Núm. 1

2016

  1. Type 1 familial partial lipodystrophy: understanding the Köbberling syndrome

    Endocrine, Vol. 54, Núm. 2, pp. 411-421

2015

  1. Corrigendum to "A glimpse into past, present, and future DNA sequencing" [Mol. Genet. Metab. 110 (2013) 3-24]

    Molecular Genetics and Metabolism

  2. Corrigendum to "Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening" [Mol. Genet. Metab. 110 (2013) 218-221]

    Molecular Genetics and Metabolism

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

  2. The early detection of Salla disease through second-tier tests in newborn screening: How to face incidental findings

    European Journal of Medical Genetics, Vol. 57, Núm. 9, pp. 527-531

2013

  1. A glimpse into past, present, and future DNA sequencing

    Molecular Genetics and Metabolism, Vol. 110, Núm. 1-2, pp. 3-24

  2. Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening

    Molecular Genetics and Metabolism, Vol. 110, Núm. 3, pp. 218-221