(Q39033165)

8 September 2017

An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation (English)

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autosomal dominant hypophosphatemic rickets

8 September 2017

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Ilhem Ben Charfeddine

5

object named as

Ilhem Ben Charfeddine

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author name string

Moez Gribaa

1

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8 September 2017

Mohamed Younes

2

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8 September 2017

Yosra Bouyacoub

3

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8 September 2017

Wided Korbaa

4

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8 September 2017

Mongi Touzi

6

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8 September 2017

Labiba Adala

7

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8 September 2017

Ons Mamay

8

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8 September 2017

Naceur Bergaoui

9

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8 September 2017

Ali Saad

10

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8 September 2017

5 August 2009

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Journal of Bone and Mineral Metabolism

8 September 2017

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8 September 2017

28

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8 September 2017

1

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8 September 2017

111-115

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https://scigraph.springernature.com/pub.10.1007/s00774-009-0111-5

8 September 2017

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cites work

Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder

1 reference

12 December 2020

"Idiopathic" hypercalciuria and hereditary hypophosphatemic rickets. Two phenotypical expressions of a common genetic defect

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12 December 2020

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

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12 December 2020

Osteomalacia associated with adult Fanconi's syndrome: clinical and diagnostic features*

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12 December 2020

Renal phosphate loss in hereditary and acquired disorders of bone mineralization.

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12 December 2020

Anti-FGF23 neutralizing antibodies show the physiological role and structural features of FGF23.

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12 December 2020

FGF23 is processed by proprotein convertases but not by PHEX.

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12 December 2020

Osteomalacia as a very late manifestation of primary hyperparathyroidism

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12 December 2020

Phosphate diabetes, tubular phosphate reabsorption and phosphatonins

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12 December 2020

Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13.

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12 December 2020

Regulation of fibroblastic growth factor 23 expression but not degradation by PHEX.

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12 December 2020

An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.

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12 December 2020

Osteomalacia secondary to renal tubular acidosis in a patient with primary Sjögren's syndrome

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12 December 2020

Calcification of entheses associated with X-linked hypophosphatemic osteomalacia

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12 December 2020

Autosomal-dominant hypophosphatemic rickets (ADHR) mutations stabilize FGF-23

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12 December 2020

Phosphate, the renal tubule, and the musculoskeletal system

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12 December 2020

FGFR3 and FGFR4 do not mediate renal effects of FGF23.

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12 December 2020

The autosomal dominant hypophosphatemic rickets R176Q mutation in fibroblast growth factor 23 resists proteolytic cleavage and enhances in vivo biological potency

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12 December 2020

Nomogram for derivation of renal threshold phosphate concentration

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12 December 2020

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

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12 December 2020

Parathyroid Hormone Effects on Serum 1,25-Dihydroxyvitamin D Levels in Patients with X-Linked Hypophosphatemic Rickets: Evidence for Abnormal 25-Hydroxyvitamin D-1-Hydroxylase Activity*

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12 December 2020

Fibroblast growth factor-23 mutants causing familial tumoral calcinosis are differentially processed.

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12 December 2020

New perspectives on the biology and treatment of X-linked hypophosphatemic rickets

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12 December 2020

[Genetics of hypophosphosphatemia]

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12 December 2020

The syndrome of distal (type 1) renal tubular acidosis. Clinical and laboratory findings in 58 cases

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12 December 2020

FGF23 and disorders of phosphate homeostasis

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12 December 2020

10.1007/S00774-009-0111-5

Identifiers

DOI

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8 September 2017

1 reference