{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T21:03:39Z","timestamp":1791147819996,"version":"4.1.0"},"reference-count":18,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2012,11,1]],"date-time":"2012-11-01T00:00:00Z","timestamp":1351728000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"Polish MPS Society (\u2018Stowarzyszenie Chorych na Mukopolisacharydoze i Choroby Rzadkie\u2019)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2012,11]]},"DOI":"10.1016\/j.ymgme.2012.08.013","type":"journal-article","created":{"date-parts":[[2012,8,17]],"date-time":"2012-08-17T15:30:29Z","timestamp":1345217429000},"page":"508-512","source":"Crossref","is-referenced-by-count":29,"title":["Effect of rapid cessation of enzyme replacement therapy: A report of 5 cases and a review of the literature"],"prefix":"10.1016","volume":"107","author":[{"given":"Agnieszka","family":"Jurecka","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zbigniew","family":"\u017buber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Violetta","family":"Opoka-Winiarska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grzegorz","family":"W\u0119grzyn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Tylki-Szyma\u0144ska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2012.08.013_bb0005","doi-asserted-by":"crossref","first-page":"2697","DOI":"10.2165\/00003495-200767180-00005","article-title":"Treatment of lysosomal storage disorders: progress with enzyme replacement therapy","volume":"67","author":"Rohrbach","year":"2007","journal-title":"Drugs"},{"key":"10.1016\/j.ymgme.2012.08.013_bb0010","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1007\/s10545-006-0237-8","article-title":"Effect of discontinuing of laronidase in a patient with mucopolysaccharidosis type I","volume":"29","author":"Anbu","year":"2006","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2012.08.013_bb0015","doi-asserted-by":"crossref","first-page":"1925","DOI":"10.1002\/ajmg.a.31831","article-title":"Rapid deterioration of a patient with mucopolysaccharidosis type I during interruption of enzyme replacement therapy","volume":"143A","author":"W\u0119grzyn","year":"2007","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ymgme.2012.08.013_bb0020","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/j.ymgme.2010.11.155","article-title":"Expert opinion on temporary treatment recommendations for Fabry disease during the shortage of enzyme replacement therapy (ERT) Mol","volume":"102","author":"Linthorst","year":"2011","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2012.08.013_bb0025","series-title":"Klinische Tests an Knochen Gelenken und Muskeln","author":"Buckup","year":"1995"},{"key":"10.1016\/j.ymgme.2012.08.013_bb0030","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1016\/S1047-9651(18)30047-0","article-title":"Goniometric techniques for range-of-motion assessment","volume":"12","author":"Gerhardt","year":"2001","journal-title":"Phys. Med. Rehabil. Clin. N. Am."},{"key":"10.1016\/j.ymgme.2012.08.013_bb0035","series-title":"Das Gesetz der Transformation der Knochen","author":"Wolff","year":"1982"},{"key":"10.1016\/j.ymgme.2012.08.013_bb0040","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1682\/JRRD.2003.03.0149","article-title":"The globe system: an unambiguous description of shoulder positions in daily life movements","volume":"40","author":"Doorenbosch","year":"2003","journal-title":"J. Rehabil. Res. Dev."},{"key":"10.1016\/j.ymgme.2012.08.013_bb0045","series-title":"9th International Symposium on Mucopolysaccharidosis and Related Diseases, Venice","first-page":"216","article-title":"MPS I registry health assessment questionnaire","author":"Norato","year":"2006"},{"key":"10.1016\/j.ymgme.2012.08.013_bb0050","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1046\/j.1365-2141.2000.02177.x","article-title":"Withdrawal of enzyme replacement therapy in Gaucher's disease","volume":"110","author":"Elstein","year":"2000","journal-title":"Br. J. Haematol."},{"key":"10.1016\/j.ymgme.2012.08.013_bb0055","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/S0009-9120(99)00098-3","article-title":"Changes in serum chitotriosidase activity with cessation of replacement enzyme (cerebrosidase) administration in Gaucher disease","volume":"33","author":"Czartoryska","year":"2000","journal-title":"Clin. Biochem."},{"key":"10.1016\/j.ymgme.2012.08.013_bb0060","doi-asserted-by":"crossref","first-page":"1084","DOI":"10.1046\/j.1365-2141.2001.02821-9.x","article-title":"Clinical monitoring after cessation of enzyme replacement therapy in M. Gaucher","volume":"113","author":"vom Dahl","year":"2001","journal-title":"Br. J. Haematol."},{"key":"10.1016\/j.ymgme.2012.08.013_bb0065","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1097\/00125817-200211000-00005","article-title":"Cessation of enzyme replacement therapy in Gaucher disease","volume":"4","author":"Grinzaid","year":"2002","journal-title":"Genet. Med."},{"key":"10.1016\/j.ymgme.2012.08.013_bb0070","doi-asserted-by":"crossref","first-page":"1913","DOI":"10.1073\/pnas.87.5.1913","article-title":"Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease","volume":"87","author":"Barton","year":"1990","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.ymgme.2012.08.013_bb0075","article-title":"Clinical consequences of reduced dosing schedule during treatment of a patient with Pompe's disease","volume":"1","author":"Barrot-Cortes","year":"2011","journal-title":"Biol. Ther."},{"key":"10.1016\/j.ymgme.2012.08.013_bb0080","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1186\/1750-1172-6-72","article-title":"Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease","volume":"6","author":"Scarpa","year":"2011","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2012.08.013_bb0085","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1016\/j.mehy.2003.12.027","article-title":"A general model for genetic regulation of turnover of glycosaminoglycans suggests a possible procedure for prediction of severity and clinical progress of mucopolysaccharidoses","volume":"62","author":"Wegrzyn","year":"2004","journal-title":"Med. Hypotheses"},{"issue":"5","key":"10.1016\/j.ymgme.2012.08.013_bb0090","first-page":"e84","volume":"114","author":"Bonow","year":"2006","journal-title":"American College of Cardiology\/American Heart Association Task Force on Practice Guidelines; Society of Cardiovascular Anesthesiologists; Society for Cardiovascular Angiography and Interventions; Society of Thoracic Surgeons, Circulation"}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719212003137?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719212003137?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,7,2]],"date-time":"2019-07-02T23:09:15Z","timestamp":1562108955000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719212003137"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,11]]},"references-count":18,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2012,11]]}},"alternative-id":["S1096719212003137"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2012.08.013","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2012,11]]}}}