Publicacións en colaboración con investigadores/as de Emory University (4)

2015

  1. Mudd's disease (MAT I/III deficiency): A survey of data for MAT1A homozygotes and compound heterozygotes

    Orphanet Journal of Rare Diseases, Vol. 10, Núm. 1

2012

  1. Diversity of approaches to classic galactosemia around the world: A comparison of diagnosis, intervention, and outcomes

    Journal of Inherited Metabolic Disease, Vol. 35, Núm. 6, pp. 1037-1049

  2. Erratum: Diversity of approaches to classic galactosemia around the world: A comparison of diagnosis, intervention, and outcomes (J Inherit Metab Dis DOI 10.1007/s10545-012-9477-y)

    Journal of Inherited Metabolic Disease

1999

  1. A limited repertoire of mutations of the luteinizing hormone (LH) receptor gene in familial and sporadic patients with male LH-independent precocious puberty

    Journal of Clinical Endocrinology and Metabolism, Vol. 84, Núm. 3, pp. 1136-1140