Publicaciones en colaboración con investigadores/as de Yale School of Medicine (3)

2024

  1. An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH)

    Kidney International, Vol. 105, Núm. 5, pp. 1058-1076

1999

  1. Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness

    Nature Genetics, Vol. 21, Núm. 1, pp. 84-90

1998

  1. Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 95, Núm. 11, pp. 6337-6342