Literature DB >> 9113957

Hyperostosis with hyperphosphatemia: evidence of familial occurrence and association with tumoral calcinosis.

H Narchi1.   

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Year:  1997        PMID： 9113957     DOI： 10.1542/peds.99.5.745

Source DB:  PubMed          Journal:  Pediatrics        ISSN： 0031-4005            Impact factor:   7.124


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  13 in total

1.  Dietary phosphate restriction normalizes biochemical and skeletal abnormalities in a murine model of tumoral calcinosis.

Authors:  Shoji Ichikawa; Anthony M Austin; Amie K Gray; Matthew R Allen; Michael J Econs
Journal:  Endocrinology       Date:  2011-10-18       Impact factor: 4.736

2.  Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome.

Authors:  Mary Scott Ramnitz; Pravitt Gourh; Raphaela Goldbach-Mansky; Felasfa Wodajo; Shoji Ichikawa; Michael J Econs; Kenneth E White; Alfredo Molinolo; Marcus Y Chen; Theo Heller; Jaydira Del Rivero; Patricia Seo-Mayer; Bita Arabshahi; Malaka B Jackson; Sarah Hatab; Edward McCarthy; Lori C Guthrie; Beth A Brillante; Rachel I Gafni; Michael T Collins
Journal:  J Bone Miner Res       Date:  2016-09-20       Impact factor: 6.741

3.  Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders.

Authors:  Yaacov Frishberg; Orit Topaz; Reuven Bergman; Doron Behar; Drora Fisher; Derek Gordon; Gabriele Richard; Eli Sprecher
Journal:  J Mol Med (Berl)       Date:  2004-12-15       Impact factor: 4.599

Review 4.  Rickets: Part II.

Authors:  Richard M Shore; Russell W Chesney
Journal:  Pediatr Radiol       Date:  2012-11-21

5.  Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.

Authors:  Shoji Ichikawa; Geneviève Baujat; Aksel Seyahi; Anastasia G Garoufali; Erik A Imel; Leah R Padgett; Anthony M Austin; Andrea H Sorenson; Zagorka Pejin; Vicken Topouchian; Pierre Quartier; Valerie Cormier-Daire; Michele Dechaux; Fotini Ch Malandrinou; Panagiotis N Singhellakis; Martine Le Merrer; Michael J Econs
Journal:  Am J Med Genet A       Date:  2010-04       Impact factor: 2.802

6.  Tumoral calcinosis with hyperphosphatemia.

Authors:  S Mahadevan; B Adhisivam; Chandra N Kumar
Journal:  Indian J Pediatr       Date:  2005-10       Impact factor: 1.967

7.  Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3.

Authors:  Leo Joseph; Sandra N Hing; Nadege Presneau; Paul O'Donnell; Tim Diss; Bernadine D Idowu; Selvanayagam Joseph; Adrienne Margaret Flanagan; David Delaney
Journal:  Skeletal Radiol       Date:  2009-10-15       Impact factor: 2.199

8.  Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification.

Authors:  Eli Sprecher
Journal:  J Invest Dermatol       Date:  2009-10-29       Impact factor: 8.551

Review 9.  Fibroblast growth factor 23: state of the field and future directions.

Authors:  Nisan Bhattacharyya; William H Chong; Rachel I Gafni; Michael T Collins
Journal:  Trends Endocrinol Metab       Date:  2012-08-24       Impact factor: 12.015

10.  Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome.

Authors:  Faysal Gok; Ilana Chefetz; Margarita Indelman; Murat Kocaoglu; Eli Sprecher
Journal:  Acta Orthop       Date:  2009-02       Impact factor: 3.717
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