{"doi":"10.1016/j.ymgme.2016.01.011","title":"Enzyme replacement therapy prior to haematopoietic stem cell transplantation in Mucopolysaccharidosis Type I: 10year combined experience of 2 centres","abstract":null,"journal":"Molecular Genetics and Metabolism","year":2016,"id":656275,"datarank":0.6190701577567639,"base_score":4.127134385045092,"endowment":4.127134385045092,"self_citation_contribution":0.6190701577567639,"citation_network_contribution":0.0,"self_endowment_contribution":0.6190701577567639,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":61,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1713167,"name":"Weston Miller","orcid":null,"position":1,"is_corresponding":false},{"id":213483,"name":"Paul J. Orchard","orcid":"0000-0001-9426-1292","position":2,"is_corresponding":false},{"id":554305,"name":"Simon A. Jones","orcid":"0000-0001-7297-9711","position":3,"is_corresponding":false},{"id":1713172,"name":"Jean Mercer","orcid":null,"position":4,"is_corresponding":false},{"id":1252083,"name":"Heather J. Church","orcid":null,"position":5,"is_corresponding":false},{"id":1713173,"name":"Karen Tylee","orcid":null,"position":6,"is_corresponding":false},{"id":1713174,"name":"Troy Lund","orcid":null,"position":7,"is_corresponding":false},{"id":1713175,"name":"Brian W. Bigger","orcid":null,"position":8,"is_corresponding":false},{"id":116829,"name":"Jakub Tolar","orcid":null,"position":9,"is_corresponding":false},{"id":1713176,"name":"Robert F. Wynn","orcid":null,"position":10,"is_corresponding":false},{"id":1713164,"name":"Arunabha Ghosh","orcid":"0000-0002-8202-8693","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Enzyme replacement therapy prior to haematopoietic stem cell transplantation in Mucopolysaccharidosis Type I: 10year combined experience of 2 centres","abstract":"Haematopoietic stem cell transplantation is the treatment of choice for the severe form of Mucopolysaccharidosis Type I, or Hurler syndrome. In many centres standard practice is to deliver enzyme replacement therapy alongside haematopoietic stem cell transplantation to improve the condition of the patient prior to transplant. We report the combined 10 year experience of this approach in two paediatric metabolic and transplant centres. Of 81 patients who underwent a first transplant procedure for Hurler, 88% (71/81) survived and 81% (66/81) were alive and engrafted at a median follow-up of 46 months (range 3-124 months). The incidence of grade II-IV acute and any chronic graft versus host disease was 17% and 11% respectively. Urinary glycosaminoglycans were significantly reduced after a period of enzyme replacement therapy, and further reductions were seen at 13-24 months and 25+months after transplantation. In several individuals with decreased cardiac contractility, an improvement of their condition during enzyme replacement therapy enabled them to undergo transplantation, with one individual receiving full intensity conditioning.","is_dataset_classified":null,"base_score":4.127134385045092,"endowment":4.127134385045092,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"26832957","pmcid":"PMC5177791","openalex_id":"https://openalex.org/W2254407500","authors":[],"funders":[{"funder_name":"NCI NIH HHS","grant_id":"P30 CA077598","title":null}],"total_grants":1,"fwci":5.796,"citation_percentile":0.96490411,"influential_citations":0,"citation_trend":[{"year":2016,"count":2},{"year":2017,"count":10},{"year":2018,"count":8},{"year":2019,"count":11},{"year":2020,"count":5},{"year":2021,"count":9},{"year":2022,"count":4},{"year":2023,"count":3},{"year":2024,"count":2},{"year":2025,"count":3},{"year":2026,"count":4}],"oa_status":"green","license":"https://www.elsevier.com/tdm/userlicense/1.0/","oa_locations":[{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5177791","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5177791","host_type":"repository"},{"url":"https://api.elsevier.com/content/article/PII:S1096719216300105?httpAccept=text/xml","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S1096719216300105?httpAccept=text/plain","host_type":"publisher"},{"url":"https://doi.org/10.1016/j.ymgme.2016.01.011","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/26832957","host_type":"repository"},{"url":"https://research.manchester.ac.uk/en/publications/1a8400f7-5aef-4e60-a2fd-8a4c9d931cd7","host_type":"repository"}],"fields_of_study":["Lysosomal Storage Disorders Research","Biomedical Research and Pathophysiology","Research on Leishmaniasis Studies"],"mesh_terms":["Child, Preschool","Female","Follow-Up Studies","Glycosaminoglycans","Graft vs Host Disease","Humans","Iduronidase","Infant","Mucopolysaccharidosis I","Male","Time Factors","Survival Analysis","Treatment Outcome","Hematopoietic Stem Cell Transplantation","Enzyme Replacement Therapy"],"keywords":["Enzyme replacement therapy","Haematopoiesis","Transplantation","Mucopolysaccharidosis","Stem cell","Medicine","Hematopoietic stem cell transplantation","Internal medicine","Cancer research","Oncology","Biology","Genetics","Disease","Outcome","Hurler Syndrome","Mucopolysaccharidosis Type I","Haematopoietic Stem Cell Transplantation"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-11T20:20:56.122049Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}