D. Castiñeiras

发表

Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis.

A. Ribes, M. Castro‐Gago, O. López-Suárez, 2013, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia.

L. Vilarinho, J. Cocho, R. Yahyaoui, 2014, JIMD reports.

Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: Diagnosis in an expanded neonatal screening programme

M. I. Mora, F. Corrales, M. Couce, 2008, Journal of Inherited Metabolic Disease.

Development of electrospray ionization tandem mass spectrometry methods for the study of a high number of urine markers of inborn errors of metabolism.

J. Cocho, M. Couce, J. Fraga, 2012, Rapid communications in mass spectrometry : RCM.

Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain).

B. Andresen, A. Ribes, P. Sánchez-Pintos, 2011, JIMD reports.

Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme.

J. Cocho, M. Couce, J. Fraga, 2011, Molecular genetics and metabolism.

[Biotinidase deficiency: importance of its neonatal diagnosis and early treatment].

F. Martinón-Torres, J. Fraga, D. Castiñeiras, 1999, Anales espanoles de pediatria.

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

M. Couce, M. Coll, A. Fernández-Marmiesse, 2014, European journal of medical genetics.

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

M. Castro‐Gago, J. Armstrong, M. Pineda, 2014, Orphanet Journal of Rare Diseases.

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

J. Cocho, M. Couce, A. Fernández-Marmiesse, 2013, Molecular genetics and metabolism.

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

F. Corrales, M. Couce, S. Mudd, 2013, Molecular genetics and metabolism.

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency

A. Ribes, E. Martins, L. Diogo, 2013, Orphanet Journal of Rare Diseases.

Reference values of amino acids, acylcarnitines and succinylacetone by tandem mass spectrometry for use in newborn screening in southwest Colombia

J. Cocho, S. Herrera, M. Arévalo-Herrera, 2017, Colombia medica.

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].

F. Corrales, M. Couce, S. Mudd, 2015, Molecular genetics and metabolism.

Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain).

P. Sánchez-Pintos, J. Cocho, D. Quelhas, 2011, JIMD reports.