{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T04:39:12Z","timestamp":1774327152329,"version":"3.50.1"},"reference-count":7,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2010,9,24]],"date-time":"2010-09-24T00:00:00Z","timestamp":1285286400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Treatment of infantile Pompe disease with recombinant human acid \u03b1\u2010glucosidase has shown substantial improvement in survival, and in cardiac, motor and respiratory functions. We analyzed the outcome of all patients with infantile Pompe disease treated in the United Kingdom since the availability of the enzyme, using a questionnaire\u2010based survey circulated to all treating centres. A total of 20 infants were treated from 2000 to 2009. Median ages at diagnosis and treatment were 5.75 months (range 0.25\u201331 months) and 6.5 months (0.5\u201332 months), respectively. Median duration of treatment was 31 months (1\u2013102 months). Overall ventilator\u2010free survival was 35% (7\/20 infants), while 35% (7\/20) died at a median age of 10 months (5.75\u201315 months) and 30% (6\/20) were alive but ventilator\u2010dependent. Endotracheal intubation for acute deterioration carried a high risk of failure of extubation and progression to long\u2010term ventilation (LTV), but elective general anaesthesia, in contrast, was well tolerated. Overall outcome was worse than in the pivotal clinical trials; possible causes include later diagnosis and treatment in our patients and a higher incidence of infants at the severe end of the clinical spectrum. Careful consideration must be given to all possible outcomes, including LTV, before commencing enzyme replacement therapy in newly diagnosed infants.<\/jats:p>","DOI":"10.1007\/s10545-010-9206-3","type":"journal-article","created":{"date-parts":[[2010,9,23]],"date-time":"2010-09-23T15:39:28Z","timestamp":1285256368000},"page":"747-750","source":"Crossref","is-referenced-by-count":73,"title":["Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience"],"prefix":"10.1002","volume":"33","author":[{"given":"Anupam","family":"Chakrapani","sequence":"first","affiliation":[{"name":"Department of Clinical Inherited Metabolic Disorders Birmingham Children's Hospital Steelhouse Lane Birmingham B4 6NH UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ashok","family":"Vellodi","sequence":"additional","affiliation":[{"name":"Great Ormond Street Hospital for Children NHS trust London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Robinson","sequence":"additional","affiliation":[{"name":"Royal Hospital for Sick Children Glasgow UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simon","family":"Jones","sequence":"additional","affiliation":[{"name":"Central Manchester University Hospitals NHS Foundation Trust Manchester UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. E.","family":"Wraith","sequence":"additional","affiliation":[{"name":"Central Manchester University Hospitals NHS Foundation Trust Manchester UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,9,24]]},"reference":[{"key":"e_1_2_5_2_1","unstructured":"http:\/\/www.ncg.nhs.uk\/?dl_id=77."},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2005.11.033"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000251268.41188.04"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1203\/PDR.0b013e3181b24e94"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.08.003"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31819d0996"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.112.2.332"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-010-9206-3","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-010-9206-3","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-010-9206-3","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T14:32:34Z","timestamp":1694788354000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-010-9206-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,9,24]]},"references-count":7,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2010,12]]}},"alternative-id":["10.1007\/s10545-010-9206-3"],"URL":"https:\/\/doi.org\/10.1007\/s10545-010-9206-3","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,9,24]]}}}