Literature DB >> 30259113

An 8-year-old with genu valgum: Answers.

Kishan Srikanth1, Poyyapakkam R Srivaths2, Shweta Shah3.   

Abstract

Keywords:  Hypercalciuria; Hypophosphatemic rickets; Nephrolithiasis

Mesh：

Substances：

Year:  2018        PMID： 30259113     DOI： 10.1007/s00467-018-4090-4

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN： 0931-041X            Impact factor:   3.714


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  13 in total

1.  Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice.

Authors:  Emily G Farrow; Xijie Yu; Lelia J Summers; Siobhan I Davis; James C Fleet; Matthew R Allen; Alexander G Robling; Keith R Stayrook; Victoria Jideonwo; Martin J Magers; Holly J Garringer; Ruben Vidal; Rebecca J Chan; Charles B Goodwin; Siu L Hui; Munro Peacock; Kenneth E White
Journal:  Proc Natl Acad Sci U S A       Date:  2011-10-17       Impact factor: 11.205

2.  Burosumab Therapy in Children with X-Linked Hypophosphatemia.

Authors:  Thomas O Carpenter; Michael P Whyte; Erik A Imel; Annemieke M Boot; Wolfgang Högler; Agnès Linglart; Raja Padidela; William Van't Hoff; Meng Mao; Chao-Yin Chen; Alison Skrinar; Emil Kakkis; Javier San Martin; Anthony A Portale
Journal:  N Engl J Med       Date:  2018-05-24       Impact factor: 91.245

3.  Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation.

Authors:  Priya Phulwani; Clemens Bergwitz; Graciana Jaureguiberry; Majjid Rasoulpour; Elizabeth Estrada
Journal:  Am J Med Genet A       Date:  2011-02-22       Impact factor: 2.802

4.  Hereditary hypophosphatemic rickets with hypercalciuria.

Authors:  M Tieder; D Modai; R Samuel; R Arie; A Halabe; I Bab; D Gabizon; U A Liberman
Journal:  N Engl J Med       Date:  1985-03-07       Impact factor: 91.245

Review 5.  Regulation of bone-renal mineral and energy metabolism: the PHEX, FGF23, DMP1, MEPE ASARM pathway.

Authors:  Peter S N Rowe
Journal:  Crit Rev Eukaryot Gene Expr       Date:  2012       Impact factor: 1.807

6.  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.

Authors:  Clemens Bergwitz; Nicole M Roslin; Martin Tieder; J C Loredo-Osti; Murat Bastepe; Hilal Abu-Zahra; Danielle Frappier; Kelly Burkett; Thomas O Carpenter; Donald Anderson; Michele Garabedian; Isabelle Sermet; T Mary Fujiwara; Kenneth Morgan; Harriet S Tenenhouse; Harald Juppner
Journal:  Am J Hum Genet       Date:  2005-12-09       Impact factor: 11.025

7.  Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c.

Authors:  Gauri Dhir; Dong Li; Hakon Hakonarson; Michael A Levine
Journal:  Bone       Date:  2016-12-07       Impact factor: 4.398

8.  Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.

Authors: 
Journal:  Nat Genet       Date:  2000-11       Impact factor: 38.330

9.  A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc.

Authors:  Graciana Jaureguiberry; Thomas O Carpenter; Stuart Forman; Harald Jüppner; Clemens Bergwitz
Journal:  Am J Physiol Renal Physiol       Date:  2008-05-14

10.  Inactivation of a novel FGF23 regulator, FAM20C, leads to hypophosphatemic rickets in mice.

Authors:  Xiaofang Wang; Suzhen Wang; Changcheng Li; Tian Gao; Ying Liu; Afsaneh Rangiani; Yao Sun; Jianjun Hao; Anne George; Yongbo Lu; Jay Groppe; Baozhi Yuan; Jian Q Feng; Chunlin Qin
Journal:  PLoS Genet       Date:  2012-05-17       Impact factor: 5.917
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