Pseudohypoaldosteronism: mutation found, problem solved? (Q41667119)

6 October 2017

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title

Pseudohypoaldosteronism: mutation found, problem solved? (English)

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6 October 2017

Kuhnle U

1

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6 October 2017

publication date

1 October 1997

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Molecular and Cellular Endocrinology

6 October 2017

published in

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6 October 2017

volume

133

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6 October 2017

issue

2

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6 October 2017

page(s)

77-80

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Pseudohypoaldosteronism in a preterm infant: Intrauterine presentation as hydramnios

6 October 2017

cites work

1 reference

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7 January 2021

Ion channels--basic science and clinical disease

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7 January 2021

Pseudohypo-aldosteronism and cholelithiasis: coincidence or pathogenetic correlation?

1 reference

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7 January 2021

Aldosterone-receptor deficiency in pseudohypoaldosteronism

1 reference

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7 January 2021

Brief report: Liddle's syndrome revisited--a disorder of sodium reabsorption in the distal tubule

1 reference

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7 January 2021

Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1

1 reference

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7 January 2021

A salt wasting syndrome in infancy

1 reference

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7 January 2021

Pseudohypoaldosteronism in a female infant and her family: diversity of clinical expression and mode of inheritance

1 reference

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7 January 2021

Glucocorticoid hormone resistance during primate evolution: receptor-mediated mechanisms

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7 January 2021

Syndrome of hypertension and hyperkalemia with normal glomerular filtration rate

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7 January 2021

An infant with pseudohypoaldosteronism accompanied by cholelithiasis

1 reference

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7 January 2021

Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects

1 reference

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7 January 2021

Ion channels--molecular divining rods hit their clinical mark

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7 January 2021

Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets

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7 January 2021

Pseudohypoaldosteronism

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7 January 2021

Pseudohypoaldosteronism in eight families: different forms of inheritance are evidence for various genetic defects

1 reference

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7 January 2021

Transient pseudohypoaldosteronism in obstructive renal disease with transient reduction of lymphocytic aldosterone receptors. Results in two affected infants

1 reference

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7 January 2021

Familial pseudohypoaldosteronism: a review on the heterogeneity of the syndrome

1 reference

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7 January 2021

Pseudohypoaldosteronism: family studies to identify asymptomatic carriers by stimulation of the renin-aldosterone system

1 reference

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7 January 2021

Nephrocalcinosis in pseudohypoaldosteronism and the effect of indomethacin therapy

1 reference

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7 January 2021

Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Localisation of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mapping

1 reference

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7 January 2021

Increased chloride reabsorption as an inherited renal tubular defect in familial type II pseudohypoaldosteronism

1 reference

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7 January 2021

No alteration in the primary structure of the mineralocorticoid receptor in a family with pseudohypoaldosteronism

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2897%2900149-4

7 January 2021

10.1016/S0303-7207(97)00149-4

Identifiers

DOI

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release_uywu4bcuijblxnqdmh4edrc6ii

6 October 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/uywu4bcuijblxnqdmh4edrc6ii

24 November 2022

mapped directly with Wikidata item

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