Genetics of hereditary disorders of magnesium homeostasis (Q35591769)

9 August 2017

1 reference

title

Genetics of hereditary disorders of magnesium homeostasis (English)

1 reference

9 August 2017

author

Hannsjörg W. Seyberth

series ordinal

3

object named as

Hannsjörg W Seyberth

1 reference

9 August 2017

Karl P Schlingmann

1

1 reference

9 August 2017

Martin Konrad

series ordinal

2

1 reference

9 August 2017

publication date

22 November 2003

1 reference

9 August 2017

1 reference

9 August 2017

volume

19

1 reference

9 August 2017

issue

1

1 reference

9 August 2017

page(s)

13-25

1 reference

Functional Characterization of a Calcium-Sensing Receptor Mutation in Severe Autosomal Dominant Hypocalcemia with a Bartter-Like Syndrome

9 August 2017

cites work

1 reference

12 December 2020

Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

1 reference

12 December 2020

Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK

1 reference

12 December 2020

Paracellular channels!

1 reference

12 December 2020

Serum ionized versus total magnesium in patients with intestinal or liver disease

1 reference

12 December 2020

Exclusion of mutations in FXYD2, CLDN16 and SLC12A3 in two families with primary renal Mg2+ loss

1 reference

12 December 2020

Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III

1 reference

12 December 2020

Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: Multiple different phenotypes associated with an inactivatingAlu insertion mutation of the calcium-sensing receptor gene

1 reference

12 December 2020

Barttin increases surface expression and changes current properties of ClC-K channels

1 reference

12 December 2020

Differential expression patterns of claudins, tight junction membrane proteins, in mouse nephron segments

1 reference

12 December 2020

Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome

1 reference

12 December 2020

Primary infantile hypomagnesaemia: outcome after 21 years and treatment with continuous nocturnal nasogastric magnesium infusion

1 reference

12 December 2020

1 reference

12 December 2020

Hypomagnesaemia-hypercalciuria-nephrocalcinosis: a report of nine cases and a review

1 reference

12 December 2020

Thiazide treatment of rats provokes apoptosis in distal tubule cells

1 reference

12 December 2020

A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes

1 reference

12 December 2020

Bioavailability and pharmacokinetics of magnesium after administration of magnesium salts to humans

1 reference

12 December 2020

Magnesium transport in the renal distal convoluted tubule

1 reference

12 December 2020

Parathyroid hormone responsiveness in hypoparathyroidism with hypomagnesemia

1 reference

12 December 2020

Isolated autosomal recessive renal magnesium loss in two sisters

1 reference

12 December 2020

Localization of bumetanide- and thiazide-sensitive Na-K-Cl cotransporters along the rat nephron

1 reference

12 December 2020

Parenteral magnesium tolerance testing in the evaluation of magnesium deficiency

1 reference

12 December 2020

Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family

1 reference

12 December 2020

Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies.

1 reference

12 December 2020

Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation

1 reference

12 December 2020

Evidence for parathyroid failure in magnesium deficiency

1 reference

12 December 2020

Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes

1 reference

12 December 2020

Magnesium and potassium-sparing diuretics

1 reference

12 December 2020

The hypocalciuric or benign variant of familial hypercalcemia: clinical and biochemical features in fifteen kindreds

1 reference

12 December 2020

Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter

1 reference

12 December 2020

LTRPC7 is a Mg.ATP-regulated divalent cation channel required for cell viability

1 reference

12 December 2020

Correction of hypokalemia with antialdosterone therapy in Gitelman's syndrome.

1 reference

12 December 2020

Genetic heterogeneity in familial renal magnesium wasting

1 reference

12 December 2020

Mammalian distal tubule: physiology, pathophysiology, and molecular anatomy

1 reference

12 December 2020

Prevalence of hypomagnesemia in an unselected German population of 16,000 individuals

1 reference

12 December 2020

1 reference

12 December 2020

Phenotype resembling Gitelman's syndrome in mice lacking the apical Na+-Cl- cotransporter of the distal convoluted tubule

1 reference

12 December 2020

Developmental pattern of water and electrolyte transport in rat superficial nephrons.

1 reference

12 December 2020

Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype

1 reference

12 December 2020

A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor

1 reference

12 December 2020

Infantile variant of Bartter syndrome and sensorineural deafness: a new autosomal recessive disorder

1 reference

12 December 2020

The associations of levels of serum potassium and magnesium with ventricular premature complexes (the Framingham Heart Study)

1 reference

12 December 2020

Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpoint

1 reference

12 December 2020

Recent advances in molecular genetics of hereditary magnesium-losing disorders

1 reference

12 December 2020

Renal magnesium handling: new insights in understanding old problems

1 reference

12 December 2020

Paracellin-1 is critical for magnesium and calcium reabsorption in the human thick ascending limb of Henle

1 reference

12 December 2020

Ion transport mechanisms in thick ascending limb of Henle's loop of mammalian nephron

1 reference

12 December 2020

Assessment of magnesium status in patients with bronchial asthma

1 reference

12 December 2020

Distinct regulatory effects of the Na,K-ATPase gamma subunit

1 reference

12 December 2020

Biological variation of urinary magnesium

1 reference

12 December 2020

Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype

1 reference

12 December 2020

Renal magnesium wasting, incomplete tubular acidosis, hypercalciuria and nephrocalcinosis in siblings

1 reference

12 December 2020

Intestinal absorption of magnesium from food and supplements

1 reference

12 December 2020

Renal magnesium handling and its hormonal control

1 reference

12 December 2020

Functional hypoparathyroidism and parathyroid hormone end-organ resistance in human magnesium deficiency

1 reference

12 December 2020

Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia

1 reference

12 December 2020

Renal magnesium wasting in two families with autosomal dominant inheritance

1 reference

12 December 2020

Application of Urine Magnesium/Creatinine Ratio as an Indicator for Insufficient Magnesium Intake

1 reference

12 December 2020

Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. International Collaborative Study Group for Bartter-like Syndromes [published e

1 reference

12 December 2020

Clinical presentation and outcome in primary familial hypomagnesaemia

1 reference

12 December 2020

Biological variation of serum and urinary magnesium in apparently healthy males.

1 reference

12 December 2020

Decreased bicarbonate threshold and renal magnesium wasting in a sibship with distal renal tubular acidosis. (Evaluation of the pathophysiological role of parathyroid hormone)

1 reference

12 December 2020

Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2

1 reference

12 December 2020

Modulation of electrolyte excretion by potassium retaining diuretics

1 reference

12 December 2020

Extracellular calcium-sensing receptor: implications for calcium and magnesium handling in the kidney

1 reference

12 December 2020

Hypomagnesaemia of hereditary renal origin

1 reference

12 December 2020

Treatment of idiopathic renal magnesium wasting with amiloride

1 reference

12 December 2020

Hereditary isolated renal magnesium loss maps to chromosome 11q23.

1 reference

12 December 2020

Evidence for skeletal resistance to parathyroid hormone in magnesium deficiency. Studies in isolated perfused bone

1 reference

12 December 2020

Magnesium deficiency in critically ill patients.

1 reference

12 December 2020

Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome

1 reference

12 December 2020

Genetic disorders of magnesium homeostasis

1 reference

12 December 2020

Magnesium: the fifth but forgotten electrolyte

1 reference

12 December 2020

[Subcutaneous magnesium pump in a patient with combined magnesium transport defect]

1 reference

12 December 2020

Functional magnesium deficiency in critically ill patients identified using a magnesium-loading test.

1 reference

12 December 2020

Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis

1 reference

12 December 2020

Studies in primary hypomagnesaemia: evidence for defective carrier-mediated small intestinal transport of magnesium

1 reference

12 December 2020

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis

1 reference

12 December 2020

Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion

1 reference

12 December 2020

Familial hypomagnesaemia--hypercalciuria leading to end-stage renal failure

1 reference

12 December 2020

Phospholipase A2 is involved in mediating the effect of extracellular Ca2+ on apical K+ channels in rat TAL.

1 reference

12 December 2020

PGE2 stimulates Mg2+ uptake in mouse distal convoluted tubule cells

1 reference

12 December 2020

Cloning and characterization of an extracellular Ca(2+)-sensing receptor from bovine parathyroid

1 reference

12 December 2020

Magnesium in disease: a review with special emphasis on the serum ionized magnesium

1 reference

12 December 2020

Can one really measure magnesium deficiency using the short-term magnesium loading test?

1 reference

12 December 2020

Extracellular calcium sensing and extracellular calcium signaling

1 reference

12 December 2020

Epithelial magnesium transport and regulation by the kidney

1 reference

12 December 2020

Primary hypomagnesemia with secondary hypocalcemia in an infant

1 reference

12 December 2020

Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit

1 reference

12 December 2020

Mg2+/Ca2+ sensing inhibits hormone-stimulated Mg2+ uptake in mouse distal convoluted tubule cells.

1 reference

12 December 2020

Inherited disorders of renal magnesium handling

1 reference

12 December 2020

Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life.

1 reference

12 December 2020

Association between activating mutations of calcium-sensing receptor and Bartter's syndrome

1 reference

12 December 2020

Primary hypomagnesemia with a probable double magnesium transport defect

1 reference

12 December 2020

Abnormal renal magnesium handling

1 reference

12 December 2020

Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure

1 reference

12 December 2020

Magnesium. An update on physiological, clinical and analytical aspects

1 reference

12 December 2020

Severe hypomagnesemia in a neonate with isolated renal magnesium loss

1 reference

12 December 2020

Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness

1 reference

12 December 2020

Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption

1 reference

12 December 2020

A new familial disorder characterized by hypokalemia and hypomagnesemia

1 reference

12 December 2020

Fractional excretion of magnesium in normal subjects and in patients with hypomagnesemia

1 reference

12 December 2020

10.1007/S00467-003-1293-Z

Identifiers

DOI

1 reference

release_6laew5tin5dnphaxeuuqwxzmjy

9 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/6laew5tin5dnphaxeuuqwxzmjy

24 November 2022

mapped directly with Wikidata item

1 reference