Gitelman's variant of Barter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na–Cl cotransporter
DB Simon, C Nelson-Williams, M Johnson Bia… - Nature …, 1996 - nature.com
Maintenance of fluid and electrolyte homeostasis is critical for normal neuromuscular
function. Bartter's syndrome is an autosomal recessive disease characterized by diverse …
function. Bartter's syndrome is an autosomal recessive disease characterized by diverse …
Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na–K–2CI cotransporter NKCC2
DB Simon, FE Karet, JM Hamdan, AD Pietro… - Nature …, 1996 - nature.com
Inherited hypokalaemic alkalosis with low blood pressure can be divided into two groups—
Gitelman's syndrome, featuring hypocalciuria, hypomagnesaemia and milder clinical …
Gitelman's syndrome, featuring hypocalciuria, hypomagnesaemia and milder clinical …
The molecular basis of inherited hypokalemic alkalosis: Bartter's and Gitelman's syndromes
DB Simon, RP Lifton - American Journal of Physiology …, 1996 - journals.physiology.org
Hypokalemic alkalosis with low blood pressure can be caused by a number of medications
or alternatively as an autosomal recessive genetic trait. Molecular genetic approaches to this …
or alternatively as an autosomal recessive genetic trait. Molecular genetic approaches to this …
Inherited primary renal tubular hypokalemic alkalosis: a review of Gitelman and Bartter syndromes
AJ Shaer - The American journal of the medical sciences, 2001 - Elsevier
Inherited hypokalemic metabolic alkalosis, or Bartter syndrome, comprises several closely
related disorders of renal tubular electrolyte transport. Recent advances in the field of …
related disorders of renal tubular electrolyte transport. Recent advances in the field of …
Bartter syndrome: unraveling the pathophysiologic enigma
LM Guay-Woodford - The American journal of medicine, 1998 - Elsevier
Familial hypokalemic, hypochloremic metabolic alkalosis, or Bartter syndrome, is not a
single disorder but rather a set of closely related disorders. These Bartter-like syndromes …
single disorder but rather a set of closely related disorders. These Bartter-like syndromes …
Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III
DB Simon, RS Bindra, TA Mansfield… - Nature …, 1997 - nature.com
Abstract Analysis of patients with inherited hypokalaemic alkalosis resulting from salt–
wasting has proved fertile ground for identification of essential elements of renal salt …
wasting has proved fertile ground for identification of essential elements of renal salt …
Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic …
L Károlyi, M Konrad, A Köckerling… - Human Molecular …, 1997 - academic.oup.com
Inherited renal tubular disorders associated with hypokalemic alkalosis (Bartter-like
syndromes) can be subdivided into at least three clinical phenotypes:(i) the hypocalciuric …
syndromes) can be subdivided into at least three clinical phenotypes:(i) the hypocalciuric …
Bartter and related syndromes: the puzzle is almost solved
J Rodríguez-Soriano - Pediatric Nephrology, 1998 - Springer
It is now evident that the term Bartter syndrome does not represent a unique entity but
encompasses a variety of disorders of renal electrolyte transport. Application of molecular …
encompasses a variety of disorders of renal electrolyte transport. Application of molecular …
Divalent cation transport by the distal nephron: insights from Bartter's and Gitelman's syndromes
DH Ellison - American Journal of Physiology-Renal …, 2000 - journals.physiology.org
Elucidation of the gene defects responsible for many disorders of renal fluid and electrolyte
homeostasis has provided new insights into normal and abnormal physiology. Identifying …
homeostasis has provided new insights into normal and abnormal physiology. Identifying …
Phenotype resembling Gitelman's syndrome in mice lacking the apical Na+-Cl− cotransporter of the distal convoluted tubule
PJ Schultheis, JN Lorenz, P Meneton… - Journal of Biological …, 1998 - ASBMB
Mutations in the gene encoding the thiazide-sensitive Na+-Cl− cotransporter (NCC) of the
distal convoluted tubule cause Gitelman's syndrome, an inherited hypokalemic alkalosis …
distal convoluted tubule cause Gitelman's syndrome, an inherited hypokalemic alkalosis …
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