{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T02:51:46Z","timestamp":1778640706521,"version":"3.51.4"},"reference-count":60,"publisher":"Walter de Gruyter GmbH","issue":"1-2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hyperostosis-hyperphosphatemia syndrome (HHS) is a rare autosomal recessive metabolic disorder caused by mutations in the<\/jats:p>","DOI":"10.1515\/jpem-2014-0178","type":"journal-article","created":{"date-parts":[[2014,8,5]],"date-time":"2014-08-05T17:03:50Z","timestamp":1407258230000},"source":"Crossref","is-referenced-by-count":4,"title":["Hyperostosis-hyperphosphatemia syndrome (HHS): report of two cases with a recurrent mutation and review of the literature"],"prefix":"10.1515","volume":"28","author":[{"given":"Soudeh","family":"Ghafouri-Fard","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Farzaneh","family":"Abbasi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Faezeh","family":"Azizi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mona","family":"Javaheri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehrzad","family":"Mehdizadeh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arya","family":"Setoodeh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref581","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1007\/s00439-005-0026-8","article-title":"novel homozygous missense mutation in causes familial tumoral calcinosis associated with disseminated visceral calcification","volume":"23","author":"Chefetz","year":"2005","journal-title":"Hum Genet"},{"key":"ref651","first-page":"131","article-title":"Sprecher Newly discovered mutations in the gene causing autosomal recessive hyperostosis - hyperphosphatemia syndrome","author":"Chefetz","year":"2009","journal-title":"Acta Orthop"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1007\/s10038-006-0377-6","article-title":"Sprecher Hyperphosphatemic familial tumoral calcinosis caused by a mutation in in a European kindred","author":"Specktor","year":"2006","journal-title":"J Hum Genet"},{"key":"ref491","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1007\/s10038-006-0377-6","article-title":"Sprecher Hyperphosphatemic familial tumoral calcinosis caused by a mutation in in a European kindred","author":"Specktor","year":"2006","journal-title":"J Hum Genet"},{"key":"ref101","doi-asserted-by":"crossref","first-page":"2420","DOI":"10.1210\/jc.2004-2302","article-title":"novel mutation in a pseudoautosomal dominant form of tumoral calcinosis : evidence that the disorder is autosomal recessive","author":"Ichikawa","year":"2005","journal-title":"J Clin Endocrinol Metab"},{"key":"ref131","doi-asserted-by":"crossref","first-page":"4037","DOI":"10.1210\/jc.2006-0305","article-title":"The role of mutant UDP - acetyl - \u03b1 - d - galactosamine - polypeptide acetylgalactosaminyltransferase in regulating serum intact fibroblast growth factor and matrix extracellular phosphoglycoprotein in heritable tumoral calcinosis","volume":"23","author":"Garringer","year":"2006","journal-title":"J Clin Endocrinol Metab"},{"key":"ref241","first-page":"71","article-title":"Familial tumoral calcinosis caused by a novel mutation response to induction of tubular renal acidosis with acetazolamide and the non - calcium phosphate binder sevelamer","volume":"23","author":"Lammoglia","year":"2009","journal-title":"Horm Res Paediatr"},{"key":"ref501","doi-asserted-by":"crossref","first-page":"4037","DOI":"10.1210\/jc.2006-0305","article-title":"The role of mutant UDP - acetyl - \u03b1 - d - galactosamine - polypeptide acetylgalactosaminyltransferase in regulating serum intact fibroblast growth factor and matrix extracellular phosphoglycoprotein in heritable tumoral calcinosis","volume":"23","author":"Garringer","year":"2006","journal-title":"J Clin Endocrinol Metab"},{"key":"ref81","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1359\/jbmr.061105","article-title":"Hyperostosis hyperphosphatemia syndrome : a congenital disorder of glycosylation associated with augmented processing of fibroblast growth factor","volume":"23","author":"Frishberg","year":"2007","journal-title":"J Bone Miner Res"},{"key":"ref591","doi-asserted-by":"crossref","first-page":"5523","DOI":"10.1210\/jc.2005-0301","article-title":"novel mutation in fibroblast growth factor gene as a cause of tumoral calcinosis","volume":"23","author":"Araya","year":"2005","journal-title":"J Clin Endocrinol Metab"},{"key":"ref331","first-page":"152","article-title":"fibroblast growth factor in phosphate homeostasis and bone metabolism","volume":"23","author":"Hori","year":"2011","journal-title":"Endocrinology"},{"key":"ref401","first-page":"49","article-title":"hyperphosphataemia syndrome a diagnostic dilemma","author":"Nithyananth","year":"2008","journal-title":"Med"},{"key":"ref221","doi-asserted-by":"crossref","first-page":"5523","DOI":"10.1210\/jc.2005-0301","article-title":"novel mutation in fibroblast growth factor gene as a cause of tumoral calcinosis","volume":"23","author":"Araya","year":"2005","journal-title":"J Clin Endocrinol Metab"},{"key":"ref291","first-page":"20141","article-title":"new missense mutation in gene in a male with hyperostosis - hyperphosphatemia syndrome","volume":"23","author":"Abbasi","journal-title":"Gene"},{"key":"ref681","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1093\/hmg\/ddi034","article-title":"An missense mutation causes familial tumoral calcinosis with hyperphosphatemia","volume":"23","author":"Benet","year":"2005","journal-title":"Hum Mol Gen"},{"key":"ref201","first-page":"146","article-title":"Fibroblast growth factor mutants causing familial tumoral calcinosis are differentially processed","volume":"23","author":"Larsson","year":"2005","journal-title":"Endocrinology"},{"key":"ref361","first-page":"281","article-title":"transferase familial tumoral calcinosis Secretion of fibroblast growth factor requires glycosylation","volume":"23","author":"Kato","year":"2006","journal-title":"J Biol Chem"},{"key":"ref111","first-page":"59","article-title":"Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of in a white family Path","author":"Campagnoli","year":"2006","journal-title":"Clin"},{"key":"ref91","first-page":"579","article-title":"Topaz Mutations in encoding a protein involved in linked glycosylation cause familial tumoral calcinosis","author":"Shurman","year":"2004","journal-title":"Nat Genet"},{"key":"ref341","first-page":"281","article-title":"Regulation of fibroblast growth factor signaling by klotho","volume":"23","author":"Kurosu","year":"2006","journal-title":"J Biol Chem"},{"key":"ref441","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1016\/j.bbadis.2008.10.008","article-title":"Sprecher Familial tumoral calcinosis and the role of glycosylation in the maintenance of phosphate homeostasis -","author":"Chefetz","year":"2009","journal-title":"Mol Basis Dis"},{"key":"ref541","first-page":"516","article-title":"calcinosis due to mutation in a black African family","volume":"19","author":"Laleye","year":"2008","journal-title":"Genet"},{"key":"ref181","first-page":"152","article-title":"Clinical variability of familial tumoral calcinosis caused by novel mutations Part","author":"Ichikawa","year":"2010","journal-title":"Am J Med Genet"},{"key":"ref231","first-page":"295","article-title":"Molecular genetic and biochemical analyses of mutations in familial tumoral calcinosis","volume":"23","author":"Garringer","year":"2008","journal-title":"Am J Physiol Endocrinol Metab"},{"key":"ref171","first-page":"516","article-title":"calcinosis due to mutation in a black African family","volume":"19","author":"Laleye","year":"2008","journal-title":"Genet"},{"key":"ref611","first-page":"71","article-title":"Familial tumoral calcinosis caused by a novel mutation response to induction of tubular renal acidosis with acetazolamide and the non - calcium phosphate binder sevelamer","volume":"23","author":"Lammoglia","year":"2009","journal-title":"Horm Res Paediatr"},{"key":"ref21","first-page":"99","article-title":"RE SS The syndrome of hyperostosis and hyperphosphatemia","author":"Mikati MA","year":"1981","journal-title":"J Pediatr"},{"key":"ref481","first-page":"59","article-title":"Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of in a white family Path","author":"Campagnoli","year":"2006","journal-title":"Clin"},{"key":"ref641","first-page":"158","article-title":"novel missense mutation in causing hyperostosis hyperphosphataemia syndrome","author":"Olauson","year":"2008","journal-title":"Eur J Endocrinol"},{"key":"ref711","first-page":"281","article-title":"Regulation of fibroblast growth factor signaling by klotho","volume":"23","author":"Kurosu","year":"2006","journal-title":"J Biol Chem"},{"key":"ref31","first-page":"49","article-title":"hyperphosphataemia syndrome a diagnostic dilemma","author":"Nithyananth","year":"2008","journal-title":"Med"},{"key":"ref571","first-page":"146","article-title":"Fibroblast growth factor mutants causing familial tumoral calcinosis are differentially processed","volume":"23","author":"Larsson","year":"2005","journal-title":"Endocrinology"},{"key":"ref211","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1007\/s00439-005-0026-8","article-title":"novel homozygous missense mutation in causes familial tumoral calcinosis associated with disseminated visceral calcification","volume":"23","author":"Chefetz","year":"2005","journal-title":"Hum Genet"},{"key":"ref371","first-page":"77","article-title":"RE SS Cortical hyperostosis with hyperphosphatemia a new syndrome","author":"Melhem","year":"1970","journal-title":"J Pediatr"},{"key":"ref71","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1016\/j.bbadis.2008.10.008","article-title":"Sprecher Familial tumoral calcinosis and the role of glycosylation in the maintenance of phosphate homeostasis -","author":"Chefetz","year":"2009","journal-title":"Mol Basis Dis"},{"key":"ref451","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1359\/jbmr.061105","article-title":"Hyperostosis hyperphosphatemia syndrome : a congenital disorder of glycosylation associated with augmented processing of fibroblast growth factor","volume":"23","author":"Frishberg","year":"2007","journal-title":"J Bone Miner Res"},{"key":"ref261","first-page":"129","article-title":"Bergwitz Defective - glycosylation due to a novel homozygous mutation is associated with lack of fibroblast growth factor secretion and tumoral calcinosis","volume":"23","author":"Banerjee","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"key":"ref471","doi-asserted-by":"crossref","first-page":"2420","DOI":"10.1210\/jc.2004-2302","article-title":"novel mutation in a pseudoautosomal dominant form of tumoral calcinosis : evidence that the disorder is autosomal recessive","author":"Ichikawa","year":"2005","journal-title":"J Clin Endocrinol Metab"},{"key":"ref601","first-page":"295","article-title":"Molecular genetic and biochemical analyses of mutations in familial tumoral calcinosis","volume":"23","author":"Garringer","year":"2008","journal-title":"Am J Physiol Endocrinol Metab"},{"key":"ref01","first-page":"77","article-title":"RE SS Cortical hyperostosis with hyperphosphatemia a new syndrome","author":"Melhem","year":"1970","journal-title":"J Pediatr"},{"key":"ref421","article-title":"Novel mutations causing hyperostosis - hyperphosphatemia syndrome result in low intact fibroblast growth factor concentrations","volume":"23","author":"Ichikawa","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"ref561","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1007\/s00774-011-0260-1","article-title":"Novel mutations in causing hyperphosphatemic familial tumoral calcinosis","volume":"29","author":"Yancovitch","year":"2011","journal-title":"J Bone Miner Metab"},{"key":"ref701","first-page":"152","article-title":"fibroblast growth factor in phosphate homeostasis and bone metabolism","volume":"23","author":"Hori","year":"2011","journal-title":"Endocrinology"},{"key":"ref271","first-page":"158","article-title":"novel missense mutation in causing hyperostosis hyperphosphataemia syndrome","author":"Olauson","year":"2008","journal-title":"Eur J Endocrinol"},{"key":"ref351","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1359\/JBMR.0301264","article-title":"is a potent regulator of vitamin metabolism and phosphate homeostasis","volume":"23","author":"Shimada","year":"2004","journal-title":"J Bone Miner Res"},{"key":"ref521","first-page":"143","article-title":"Two novel mutations in familial tumoral calcinosis Part","author":"Garringer","year":"2007","journal-title":"Am J Med Genet"},{"key":"ref311","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1093\/hmg\/ddi034","article-title":"An missense mutation causes familial tumoral calcinosis with hyperphosphatemia","volume":"23","author":"Benet","year":"2005","journal-title":"Hum Mol Gen"},{"key":"ref141","doi-asserted-by":"crossref","first-page":"4472","DOI":"10.1210\/jc.2006-1247","article-title":"calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the gene","author":"Ichikawa","year":"2006","journal-title":"J Clin Endocrinol Metab"},{"key":"ref281","first-page":"131","article-title":"Sprecher Newly discovered mutations in the gene causing autosomal recessive hyperostosis - hyperphosphatemia syndrome","author":"Chefetz","year":"2009","journal-title":"Acta Orthop"},{"key":"ref731","first-page":"281","article-title":"transferase familial tumoral calcinosis Secretion of fibroblast growth factor requires glycosylation","volume":"23","author":"Kato","year":"2006","journal-title":"J Biol Chem"},{"key":"ref191","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1007\/s00774-011-0260-1","article-title":"Novel mutations in causing hyperphosphatemic familial tumoral calcinosis","volume":"29","author":"Yancovitch","year":"2011","journal-title":"J Bone Miner Metab"},{"key":"ref551","first-page":"152","article-title":"Clinical variability of familial tumoral calcinosis caused by novel mutations Part","author":"Ichikawa","year":"2010","journal-title":"Am J Med Genet"},{"key":"ref391","first-page":"99","article-title":"RE SS The syndrome of hyperostosis and hyperphosphatemia","author":"Mikati MA","year":"1981","journal-title":"J Pediatr"},{"key":"ref461","first-page":"579","article-title":"Topaz Mutations in encoding a protein involved in linked glycosylation cause familial tumoral calcinosis","author":"Shurman","year":"2004","journal-title":"Nat Genet"},{"key":"ref51","article-title":"Novel mutations causing hyperostosis - hyperphosphatemia syndrome result in low intact fibroblast growth factor concentrations","volume":"23","author":"Ichikawa","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"ref631","first-page":"129","article-title":"Bergwitz Defective - glycosylation due to a novel homozygous mutation is associated with lack of fibroblast growth factor secretion and tumoral calcinosis","volume":"23","author":"Banerjee","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"key":"ref661","first-page":"20141","article-title":"new missense mutation in gene in a male with hyperostosis - hyperphosphatemia syndrome","volume":"23","author":"Abbasi","journal-title":"Gene"},{"key":"ref721","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1359\/JBMR.0301264","article-title":"is a potent regulator of vitamin metabolism and phosphate homeostasis","volume":"23","author":"Shimada","year":"2004","journal-title":"J Bone Miner Res"},{"key":"ref151","first-page":"143","article-title":"Two novel mutations in familial tumoral calcinosis Part","author":"Garringer","year":"2007","journal-title":"Am J Med Genet"},{"key":"ref511","doi-asserted-by":"crossref","first-page":"4472","DOI":"10.1210\/jc.2006-1247","article-title":"calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the gene","author":"Ichikawa","year":"2006","journal-title":"J Clin Endocrinol Metab"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2014-0178\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,31]],"date-time":"2024-05-31T22:43:21Z","timestamp":1717195401000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2014-0178\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,1,1]]},"references-count":60,"journal-issue":{"issue":"1-2"},"URL":"https:\/\/doi.org\/10.1515\/jpem-2014-0178","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"value":"2191-0251","type":"electronic"},{"value":"0334-018X","type":"print"}],"subject":[],"published":{"date-parts":[[2015,1,1]]}}}