Report of a family with two different hereditary diseases leading to early nephrocalcinosis (Q81360102)

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8 January 2020

title

Report of a family with two different hereditary diseases leading to early nephrocalcinosis (English)

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8 January 2020

6

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8 January 2020

author name string

Rosa Vargas-Poussou

1

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8 January 2020

Pierre Cochat

2

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8 January 2020

Nelly Le Pottier

3

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8 January 2020

Isabelle Roncelin

4

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8 January 2020

Aurelia Liutkus

5

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8 January 2020

Xavier Jeunemaître

7

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publication date

26 September 2007

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8 January 2020

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8 January 2020

volume

23

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issue

1

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8 January 2020

page(s)

149-153

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Pathophysiology of the renal acidification defect present in the syndrome of familial hypomagnesaemia-hypercalciuria

8 January 2020

cites work

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12 December 2020

Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.

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12 December 2020

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

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12 December 2020

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12 December 2020

Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.

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12 December 2020

Follow-up of five patients with FHHNC due to mutations in the Paracellin-1 gene

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12 December 2020

Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement

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12 December 2020

Renal tubular acidosis: the clinical entity

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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

An unusual patient with hypercalciuria, recurrent nephrolithiasis, hypomagnesemia and G227R mutation of Paracellin-1. An unusual patient with hypercalciuria and hypomagnesemia unresponsive to thiazide diuretics

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12 December 2020

SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis

1 reference

12 December 2020

Disease-associated mutations affect intracellular traffic and paracellular Mg2+ transport function of Claudin-16

1 reference

12 December 2020

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

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12 December 2020

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis

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12 December 2020

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

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12 December 2020