Publicaciones en colaboración con investigadores/as de Hospital General de Niños Ricardo Gutierrez (3)

2022

  1. A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review

    Endocrine Connections, Vol. 11, Núm. 8

  2. Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry

    Clinical Endocrinology, Vol. 97, Núm. 5, pp. 551-561

2017

  1. Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome

    Journal of Clinical Investigation, Vol. 127, Núm. 3, pp. 942-953