Literature DB >> 11705322

Hypophosphatemic rickets.

L A DiMeglio1, M J Econs.   

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Year:  2001        PMID： 11705322     DOI： 10.1023/a:1010054727323

Source DB:  PubMed          Journal:  Rev Endocr Metab Disord        ISSN： 1389-9155            Impact factor:   6.514


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  73 in total

1.  Role of 1,25-dihydroxyvitamin D3 on intestinal phosphate absorption in rats with a normal vitamin D supply.

Authors:  R Rizzoli; H Fleisch; J P Bonjour
Journal:  J Clin Invest       Date:  1977-09       Impact factor: 14.808

2.  X-linked hypophosphatemia: a search for gender, race, anticipation, or parent of origin effects on disease expression in children.

Authors:  M P Whyte; F W Schranck; R Armamento-Villareal
Journal:  J Clin Endocrinol Metab       Date:  1996-11       Impact factor: 5.958

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

Authors:  M Tieder; D Modai; U Shaked; R Samuel; R Arie; A Halabe; J Maor; J Weissgarten; Z Averbukh; N Cohen
Journal:  N Engl J Med       Date:  1987-01-15       Impact factor: 91.245

4.  Renal transplantation in hypophosphatemia with vitamin D-resistant rickets.

Authors:  J M Morgan; W L Hawley; A I Chenoweth; W J Retan; A G Diethelm
Journal:  Arch Intern Med       Date:  1974-09

5.  Determination of a molecular map position for Hyp using a new interspecific backcross produced by in vitro fertilization.

Authors:  G Kay; R V Thakker; S Rastan
Journal:  Genomics       Date:  1991-11       Impact factor: 5.736

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

Authors:  M J Econs; P T McEnery
Journal:  J Clin Endocrinol Metab       Date:  1997-02       Impact factor: 5.958

7.  Pex/PEX tissue distribution and evidence for a deletion in the 3' region of the Pex gene in X-linked hypophosphatemic mice.

Authors:  L Beck; Y Soumounou; J Martel; G Krishnamurthy; C Gauthier; C G Goodyer; H S Tenenhouse
Journal:  J Clin Invest       Date:  1997-03-15       Impact factor: 14.808

8.  cDNA cloning of the murine Pex gene implicated in X-linked hypophosphatemia and evidence for expression in bone.

Authors:  L Du; M Desbarats; J Viel; F H Glorieux; C Cawthorn; B Ecarot
Journal:  Genomics       Date:  1996-08-15       Impact factor: 5.736

9.  A new kindred with hereditary hypophosphatemic rickets with hypercalciuria: implications for correct diagnosis and treatment.

Authors:  M Tieder; R Arie; I Bab; J Maor; U A Liberman
Journal:  Nephron       Date:  1992       Impact factor: 2.847

10.  Localization of PiUS, a stimulator of cellular phosphate uptake to human chromosome 3p21.3.

Authors:  K E White; M J Econs
Journal:  Somat Cell Mol Genet       Date:  1998-01
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  4 in total

Review 1.  Disorders of phosphate homeostasis and tissue mineralisation.

Authors:  Clemens Bergwitz; Harald Jüppner
Journal:  Endocr Dev       Date:  2009-06-03

2.  An ethyl-nitrosourea-induced point mutation in phex causes exon skipping, x-linked hypophosphatemia, and rickets.

Authors:  Marina R Carpinelli; Ian P Wicks; Natalie A Sims; Kristy O'Donnell; Katherine Hanzinikolas; Rachel Burt; Simon J Foote; Melanie Bahlo; Warren S Alexander; Douglas J Hilton
Journal:  Am J Pathol       Date:  2002-11       Impact factor: 4.307

Review 3.  FGF23 and syndromes of abnormal renal phosphate handling.

Authors:  Clemens Bergwitz; Harald Jüppner
Journal:  Adv Exp Med Biol       Date:  2012       Impact factor: 2.622

Review 4.  Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy.

Authors:  Clemens Bergwitz; Ken-Ichi Miyamoto
Journal:  Pflugers Arch       Date:  2018-08-14       Impact factor: 3.657
  4 in total

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