Publikationen in Zusammenarbeit mit Forschern von Birmingham Children's Hospital (2)

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