Publicaciones en colaboración con investigadoras/es de University Hospital Heidelberg (7)

2024

  1. Multicenter Long-Term Real World Data on Treatment With Lumasiran in Patients With Primary Hyperoxaluria Type 1

    Kidney International Reports, Vol. 9, Núm. 1, pp. 114-133

2023

  1. Clinical and genetic characteristics of Dent's disease type 1 in Europe

    Nephrology Dialysis Transplantation, Vol. 38, Núm. 6, pp. 1497-1507

  2. Molecular characterisation defines clinically-actionable heterogeneity within Group 4 medulloblastoma and improves disease risk-stratification

    Acta Neuropathologica, Vol. 145, Núm. 5, pp. 651-666

  3. Treatment and long-term outcome in primary nephrogenic diabetes insipidus

    Nephrology Dialysis Transplantation, Vol. 38, Núm. 10, pp. 2120-2130

2021

  1. Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

    Journal of Inherited Metabolic Disease, Vol. 44, Núm. 3, pp. 677-692

  2. Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

    Journal of Pediatrics, Vol. 239, pp. 231-234.e2

2006

  1. Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement

    American Journal of Human Genetics, Vol. 79, Núm. 5, pp. 949-957