The long-term complications of the inherited tubulopathies: an adult perspective.

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Renal involvement in primary Sjögren's syndrome.

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The long-term complications of the inherited tubulopathies: an adult perspective.

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The long-term complications of the inherited tubulopathies: an adult perspective.

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The long-term complications of the inherited tubulopathies: an adult perspective.

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The long-term complications of the inherited tubulopathies: an adult perspective.

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P1476

The long-term complications of the inherited tubulopathies: an adult perspective.

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P2093

Maryam Khosravi

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Stephen B Walsh

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P2860

Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness

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

Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing

CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia

Renin increases mesangial cell transforming growth factor-beta1 and matrix proteins through receptor-mediated, angiotensin II-independent mechanisms

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium

A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia

NHERF1 mutations and responsiveness of renal parathyroid hormone

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

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s00467-014-2779-6

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385-395

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scholarly article

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10.1007/S00467-014-2779-6

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2014-02-25T00:00:00Z

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260378923

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1020670655

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24566812

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The long-term complications of the inherited tubulopathies: an adult perspective.

about

P2860

P2860

The long-term complications of the inherited tubulopathies: an adult perspective.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P577

P5875

P6179

P698

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P577

P5875

P6179

P698