Literature DB >> 29681618

Clinical Utility Gene Card For: GALNT3 defective congenital disorder of glycosylation.

Jaak Jaeken1, Dirk J Lefeber2, Gert Matthijs3.   

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Year:  2018        PMID： 29681618      PMCID： PMC6057978          DOI： 10.1038/s41431-017-0002-5

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  5 in total

1.  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

2.  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 3.  Hyperphosphatemic familial tumoral calcinosis: genetic models of deficient FGF23 action.

Authors:  Lisal J Folsom; Erik A Imel
Journal:  Curr Osteoporos Rep       Date:  2015-04       Impact factor: 5.096

4.  Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.

Authors:  Orit Topaz; Daniel L Shurman; Reuven Bergman; Margarita Indelman; Paulina Ratajczak; Mordechai Mizrachi; Ziad Khamaysi; Doron Behar; Dan Petronius; Vered Friedman; Israel Zelikovic; Sharon Raimer; Arieh Metzker; Gabriele Richard; Eli Sprecher
Journal:  Nat Genet       Date:  2004-05-09       Impact factor: 38.330

Review 5.  Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature.

Authors:  Silje Rafaelsen; Stefan Johansson; Helge Ræder; Robert Bjerknes
Journal:  BMC Genet       Date:  2014-09-24       Impact factor: 2.797
  5 in total

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