Glycerol kinase deficiency presenting with hypodipsia, osmotic diuresis and severe hypernatraemia
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-005-0101-2
Reference5 articles.
1. Fall PJ (2000) Hyponatremia and hypernatremia. A systematic approach to causes and their correction. Postgrad Med 107: 75–82.
2. Gennari FJ, Kassirer JP (1974) Osmotic diuresis. N Engl J Med 291: 714–720.
3. McKenna K, Morris AD, Azam H, Newton RW, Baylis PH, Thompson CJ (1999) Exaggerated vasopressin secretion and attenuated osmoregulated thirst in human survivors of hyperosmolar coma. Diabetologia 42: 534–538.
4. Perez GO, Oster JR, Robertson GL (1989) Severe hypernatremia with impaired thirst. Am J Nephrol 9: 421–434.
5. Sjarif DR, Ploos Van Amstel JK, Duran D, Beemer FA, Poll-The BT (2000) Isolated and contiguous glycerol kinase gene disorders: a review. J Inherit Metab Dis 23: 529–547.
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Recém-nascido com deficiência de glicerol quinase: um caso clínico;Scientia Medica;2018-09-26
2. Anesthesia for a child suffering from a deletion in the Xp21 loci resulting in Duchenne disease, glycerol kinase deficiency, and congenital adrenal hypoplasia;Pediatric Anesthesia;2011-09-01
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