Publikationen in Zusammenarbeit mit Forschern von Queen Mary University of London (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

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

2011

  1. Loss of the C terminus of melanocortin receptor 2 (MC2R) results in impaired cell surface expression and ACTH insensitivity

    Journal of Clinical Endocrinology and Metabolism, Vol. 96, Núm. 1