{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T05:03:27Z","timestamp":1761541407085},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Rheumatol"],"published-print":{"date-parts":[[2017,12]]},"DOI":"10.1186\/s12969-017-0200-2","type":"journal-article","created":{"date-parts":[[2017,9,26]],"date-time":"2017-09-26T11:53:57Z","timestamp":1506426837000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease"],"prefix":"10.1186","volume":"15","author":[{"given":"Abdelali","family":"Zrhidri","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saadia","family":"Amasdl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaber","family":"Lyahyai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanane","family":"Elouardi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bouchra","family":"Chkirate","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laure","family":"Raymond","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gr\u00e9gory","family":"Eg\u00e9a","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed","family":"Taoudi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Said","family":"El Mouatassim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdelaziz","family":"Sefiani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2017,9,26]]},"reference":[{"key":"200_CR1","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1007\/BF00283732","volume":"81","author":"G Rittner","year":"1988","unstructured":"Rittner G, Schwanitz G, Baur MP, Black CM, Welsh KI, Kuhnl P, Rittner C. Family studies in scleroderma (systemic sclerosis) demonstrating an HLA-linked increased chromosomal breakage rate in cultured lymphocytes. Hum Genet. 1988;81:64\u201370.","journal-title":"Hum Genet"},{"key":"200_CR2","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1007\/s11926-014-0484-x","volume":"17","author":"BD Korman","year":"2015","unstructured":"Korman BD, Criswell LA. Recent advances in the genetics of systemic sclerosis: toward biological and clinical significance. Curr Rheumatol Rep. 2015;17:21.","journal-title":"Curr Rheumatol Rep"},{"key":"200_CR3","doi-asserted-by":"crossref","first-page":"2257","DOI":"10.1002\/art.39721","volume":"68","author":"AC Mak","year":"2016","unstructured":"Mak AC, Tang PL, Cleveland C, Smith MH, Connolly MK, Katsumoto TR, Wolters PJ, Kwok PY, Criswell LA. Whole Exome Sequencing for identification of potential causal variants for diffuse cutaneous systemic sclerosis. Arthritis Rheumatol. 2016;68:2257\u201362.","journal-title":"Arthritis Rheumatol"},{"key":"200_CR4","doi-asserted-by":"crossref","first-page":"E956","DOI":"10.1002\/humu.21099","volume":"30","author":"B Tappino","year":"2009","unstructured":"Tappino B, Chuzhanova NA, Regis S, Dardis A, Corsolini F, Stroppiano M, Tonoli E, Beccari T, Rosano C, Mucha J, Blanco M, Szlago M, Di Rocco M, Cooper DN, Filocamo M. Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha\/beta and IIIalpha\/beta in 46 patients. Hum Mutat. 2009;30:E956\u201373.","journal-title":"Hum Mutat"},{"key":"200_CR5","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1016\/j.ymgme.2011.12.012","volume":"105","author":"MF Coutinho","year":"2012","unstructured":"Coutinho MF, Prata MJ, Alves S. Mannose-6-phosphate pathway: a review on its role in lysosomal function and dysfunction. Mol Genet Metab. 2012;105:542\u201350.","journal-title":"Mol Genet Metab"},{"key":"200_CR6","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/j.ejcb.2009.10.008","volume":"89","author":"K Kollmann","year":"2010","unstructured":"Kollmann K, Pohl S, Marschner K, Encarnacao M, Sakwa I, Tiede S, Poorthuis BJ, Lubke T, Muller-Loennies S, Storch S, Braulke T. Mannose phosphorylation in health and disease. Eur J Cell Biol. 2010;89:117\u201323.","journal-title":"Eur J Cell Biol"},{"key":"200_CR7","doi-asserted-by":"crossref","first-page":"3430","DOI":"10.1002\/j.1460-2075.1994.tb06648.x","volume":"13","author":"T Ludwig","year":"1994","unstructured":"Ludwig T, Munier-Lehmann H, Bauer U, Hollinshead M, Ovitt C, Lobel P, Hoflack B. Differential sorting of lysosomal enzymes in mannose 6-phosphate receptor-deficient fibroblasts. EMBO J. 1994;13:3430\u20137.","journal-title":"EMBO J"},{"key":"200_CR8","first-page":"156","volume":"137","author":"TE Kelly","year":"1975","unstructured":"Kelly TE, Thomas GH, Taylor HA Jr, McKusick VA, Sly WS, Glaser JH, Robinow M, Luzzatti L, Espiritu C, Feingold M, Bull MJ, Ashenhurst EM, Ives EJ. Mucolipidosis III (pseudo-Hurler polydystrophy): Clinical and laboratory studies in a series of 12 patients. Johns Hopkins Med J. 1975;137:156\u201375.","journal-title":"Johns Hopkins Med J"},{"key":"200_CR9","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.gene.2013.03.105","volume":"524","author":"GK Cury","year":"2013","unstructured":"Cury GK, Matte U, Artigalas O, Alegra T, Velho RV, Sperb F, Burin MG, Ribeiro EM, Lourenco CM, Kim CA, Valadares ER, Galera MF, Acosta AX, Schwartz IV. Mucolipidosis II and III alpha\/beta in Brazil: analysis of the GNPTAB gene. Gene. 2013;524:59\u201364.","journal-title":"Gene"},{"key":"200_CR10","doi-asserted-by":"crossref","first-page":"722","DOI":"10.3346\/jkms.2003.18.5.722","volume":"18","author":"J Song","year":"2003","unstructured":"Song J, Lee DS, Cho HI, Kim JQ, Cho TJ. Biochemical characteristics of a Korean patient with mucolipidosis III (pseudo-Hurler polydystrophy). J Korean Med Sci. 2003;18:722\u20136.","journal-title":"J Korean Med Sci"},{"key":"200_CR11","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1002\/ajmg.10224","volume":"108","author":"A Tylki-Szymanska","year":"2002","unstructured":"Tylki-Szymanska A, Czartoryska B, Groener JE, Lugowska A. Clinical variability in mucolipidosis III (pseudo-Hurler polydystrophy). Am J Med Genet. 2002;108:214\u20138.","journal-title":"Am J Med Genet"},{"key":"200_CR12","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1016\/j.gene.2013.11.010","volume":"535","author":"S Liu","year":"2014","unstructured":"Liu S, Zhang W, Shi H, Meng Y, Qiu Z. Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma. Gene. 2014;535:294\u20138.","journal-title":"Gene"},{"key":"200_CR13","doi-asserted-by":"crossref","first-page":"i","DOI":"10.5606\/ArchRheumatol.2018.6262","volume":"33","author":"\u00c7S KASAPKARA","year":"2018","unstructured":"KASAPKARA \u00c7S, AK\u00c7ABOY M, ERO\u011eLU FK, DER\u0130NKUYU BE. Mucolipidosis Type III: A Rare Disease in Differential Diagnosis of Joint Stiffness in Pediatric Rheumatology. Arch Rheumatol. 2018;33:i\u2013vi.","journal-title":"Arch Rheumatol"},{"key":"200_CR14","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1016\/j.reuma.2013.10.001","volume":"10","author":"L Pantoja Zarza","year":"2014","unstructured":"Pantoja Zarza L, Diez Morrondo C. Skeletal deformities in mucolipidosis III. Reumatologia Clinica. 2014;10:340\u20131.","journal-title":"Reumatologia Clinica"},{"key":"200_CR15","doi-asserted-by":"crossref","first-page":"1181","DOI":"10.1001\/archpedi.1978.02120370029007","volume":"132","author":"JK Herd","year":"1978","unstructured":"Herd JK, Dvorak AD, Wiltse HE, Eisen JD, Kress BC, Miller AL. Mucolipidosis type III. Multiple elevated serum and urine enzyme activities. Am J Dis Child. 1978;132:1181\u20136.","journal-title":"Am J Dis Child"},{"key":"200_CR16","doi-asserted-by":"crossref","first-page":"503","DOI":"10.5858\/2010-0236-CR.1","volume":"135","author":"DA Kerr","year":"2011","unstructured":"Kerr DA, Memoli VA, Cathey SS, Harris BT. Mucolipidosis type III alpha\/beta: the first characterization of this rare disease by autopsy. Arch Pathol Lab Med. 2011;135:503\u201310.","journal-title":"Arch Pathol Lab Med"},{"key":"200_CR17","doi-asserted-by":"crossref","first-page":"1088","DOI":"10.1136\/ard.2005.044602","volume":"65","author":"J Avouac","year":"2006","unstructured":"Avouac J, Guerini H, Wipff J, Assous N, Chevrot A, Kahan A, Allanore Y. Radiological hand involvement in systemic sclerosis. Ann Rheum Dis. 2006;65:1088\u201392.","journal-title":"Ann Rheum Dis"},{"key":"200_CR18","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1016\/j.berh.2008.01.008","volume":"22","author":"SB Randone","year":"2008","unstructured":"Randone SB, Guiducci S, Cerinic MM. Musculoskeletal involvement in systemic sclerosis. Best Pract Res Clin Rheumatol. 2008;22:339\u201350.","journal-title":"Best Pract Res Clin Rheumatol"},{"key":"200_CR19","doi-asserted-by":"crossref","first-page":"e315","DOI":"10.1016\/j.lpm.2014.03.027","volume":"43","author":"V Lorand","year":"2014","unstructured":"Lorand V, Czirjak L, Minier T. Musculoskeletal involvement in systemic sclerosis. Presse Med. 2014;43:e315\u201328.","journal-title":"Presse Med"},{"key":"200_CR20","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1007\/s10067-004-1048-7","volume":"24","author":"JA Cavallasca","year":"2005","unstructured":"Cavallasca JA, Laborde HA, Araujo MB, Nasswetter GG. Multiple avascular necrosis in a patient with systemic lupus erythematosus\/systemic sclerosis overlap syndrome. Clin Rheumatol. 2005;24:406\u20138.","journal-title":"Clin Rheumatol"},{"key":"200_CR21","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1007\/BF02208044","volume":"10","author":"V Fossaluzza","year":"1991","unstructured":"Fossaluzza V, Peressini A, De Vita S. Multifocal ischemic necrosis of bone in scleroderma. Clin Rheumatol. 1991;10:95\u20137.","journal-title":"Clin Rheumatol"},{"key":"200_CR22","doi-asserted-by":"crossref","first-page":"e3","DOI":"10.1016\/j.semarthrit.2017.03.015","volume":"47","author":"C Bruni","year":"2017","unstructured":"Bruni C, Guiducci S, Bellando-Randone S, Matucci-Cerinic M. Avascular bone necrosis: an underestimated complication of systemic sclerosis. Semin Arthritis Rheum. 2017;47:e3\u20135.","journal-title":"Semin Arthritis Rheum"},{"key":"200_CR23","doi-asserted-by":"crossref","first-page":"e52","DOI":"10.1136\/jmg.2003.015222","volume":"41","author":"A Raas-Rothschild","year":"2004","unstructured":"Raas-Rothschild A, Bargal R, Goldman O, Ben-Asher E, Groener JE, Toutain A, Stemmer E, Ben-Neriah Z, Flusser H, Beemer FA, Penttinen M, Olender T, Rein AJ, Bach G, Zeigler M. Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III. J Med Genet. 2004;41:e52.","journal-title":"J Med Genet"}],"container-title":["Pediatric Rheumatology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12969-017-0200-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,8,3]],"date-time":"2022-08-03T12:33:05Z","timestamp":1659529985000},"score":1,"resource":{"primary":{"URL":"http:\/\/ped-rheum.biomedcentral.com\/articles\/10.1186\/s12969-017-0200-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9,26]]},"references-count":23,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,12]]}},"alternative-id":["200"],"URL":"https:\/\/doi.org\/10.1186\/s12969-017-0200-2","relation":{},"ISSN":["1546-0096"],"issn-type":[{"value":"1546-0096","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,9,26]]},"article-number":"72"}}