LES TUBULOPATHIES PDF

This article has been cited by other articles in PMC. Selected References These references are in PubMed. This may not be the complete list of references from this article. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.

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This article has been cited by other articles in PMC. Selected References These references are in PubMed. This may not be the complete list of references from this article. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet. Hum Mol Genet. Molecular biology of hypophosphataemic rickets and oncogenic osteomalacia.

Hum Genet. Bartter and related syndromes: the puzzle is almost solved. Pediatr Nephrol. Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger Band 3, AE1 gene. J Clin Invest. Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Mutations in the vasopressin type 2 receptor gene AVPR2 associated with nephrogenic diabetes insipidus. Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus.

Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene. Am J Hum Genet.

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The long-term complications of the inherited tubulopathies: an adult perspective

Musar Gitelman syndromes as a model to study systemic oxidative stress in humans. Tubulopathids J Physiol Renal Physiol. Inicio Tubulopathies Lowe Syndrome. There is a more generally applicable diagnostic test based on biochemical testing by measuring phosphatidylinositol 4,5-bisphosphate 5-phosphatase activity in cultured amniocytes. First report of prenatal biochemical diagnosis of Lowe syndrome.

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