QR-koodi

Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus

Bartter syndrome (BS) type 1 (OMIM #601678) is a hereditary salt-losing renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, polyuria, recurrent vomiting, and growth retardation. It is caused by loss-of-function mutations of the SLC12A1 gene, enc...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Gianluca Vergine, Elena Fabbri, Annalisa Pedini, Silvana Tedeschi, Niccolò Borsa
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Wiley 2018-01-01
Sarja:Case Reports in Pediatrics
Linkit:http://dx.doi.org/10.1155/2018/9175271
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!