{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T01:15:52Z","timestamp":1772068552395,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[1993,5,10]],"date-time":"1993-05-10T00:00:00Z","timestamp":736992000000},"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":[[1993,11]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Two mucopolysaccharidosis type I (MPS\u2010I) patients, subjected to bone marrow transplantation (BMT) more than 10 years ago, have recently had their \u03b1\u2010<jats:sc>L<\/jats:sc>\u2010iduronidase genotypes defined. Both patients, homozygous for the relatively common W<jats:sub>402<\/jats:sub>X mutation, received BMT when they were 14 and 11 months of age, and are now 12 and 14 years old, respectively. Untreated MPS\u2010I patients, homozygous for W<jats:sub>402<\/jats:sub>X, have an extremely severe clinical phenotype with rapid clinical deterioration and death before 6 years of age. The 12\u2010year\u2010old patient, with limited mobility, is coping well at school, while the other patient is wheelchair\u2010bound with severe disability in his lower limbs, and attends a school for the physically handicapped. Both patients have less than normal intelligence with slowly continuing losses. A third MPS\u2010I patients, diagnosed at the age of 6 months, was felt, prior to BMT at 14 months, to have a severe phenotype. Twelve years post\u2010BMT, he is ambulatory, albeit with restricted movement, and has normal intelligence. This patient did not have a defined MPS\u2010I genotype and had \u03b1\u2010<jats:sc>L<\/jats:sc>\u2010iduronidase protein and activity consistent with a less severe outcome than the first two patients. We conclude that BMT has significantly slowed down the clinical regression of the W<jats:sub>402<\/jats:sub>X phenotype. We propose that if further gains are to be made, BMT should be performed within the first few months of life. Early diagnosis is therefore essential.<\/jats:p>","DOI":"10.1007\/bf00711520","type":"journal-article","created":{"date-parts":[[2004,11,30]],"date-time":"2004-11-30T08:47:37Z","timestamp":1101804457000},"page":"1024-1033","source":"Crossref","is-referenced-by-count":55,"title":["Long\u2010term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotype"],"prefix":"10.1002","volume":"16","author":[{"given":"J. J.","family":"Hopwood","sequence":"first","affiliation":[{"name":"Lysosomal Diseases Research Unit, Department of Chemical Pathology Adelaide' Children's Hospital  North Adelaide South Australia 5006 Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Vellodi","sequence":"additional","affiliation":[{"name":"Bone Marrow Transplant Unit Westminster Children's Hospital  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. S.","family":"Scott","sequence":"additional","affiliation":[{"name":"Lysosomal Diseases Research Unit, Department of Chemical Pathology Adelaide' Children's Hospital  North Adelaide South Australia 5006 Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. P.","family":"Morris","sequence":"additional","affiliation":[{"name":"Lysosomal Diseases Research Unit, Department of Chemical Pathology Adelaide' Children's Hospital  North Adelaide South Australia 5006 Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Litjens","sequence":"additional","affiliation":[{"name":"Lysosomal Diseases Research Unit, Department of Chemical Pathology Adelaide' Children's Hospital  North Adelaide South Australia 5006 Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P. R.","family":"Clements","sequence":"additional","affiliation":[{"name":"Lysosomal Diseases Research Unit, Department of Chemical Pathology Adelaide' Children's Hospital  North Adelaide South Australia 5006 Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. A.","family":"Brooks","sequence":"additional","affiliation":[{"name":"Lysosomal Diseases Research Unit, Department of Chemical Pathology Adelaide' Children's Hospital  North Adelaide South Australia 5006 Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Cooper","sequence":"additional","affiliation":[{"name":"Willink Biochemical Genetics Unit Royal Manchester Children's Hospital  Manchester UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. E.","family":"Wraith","sequence":"additional","affiliation":[{"name":"Willink Biochemical Genetics Unit Royal Manchester Children's Hospital  Manchester UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1993,5,10]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"789","article-title":"Immunoquantification and enzyme kinetics of \u03b1\u2010L\u2010iduronidase in cultured fibroblasts for mucopolysaccharidosis type I patients","volume":"50","author":"Ashton LJ","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(81)91046-1"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-662-02613-7_52"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(82)90674-1"},{"key":"e_1_2_1_6_1","first-page":"381","article-title":"The mucopolysaccharidoses: diagnosis, molecular genetics and treatment","volume":"7","author":"Hopwood JJ","year":"1990","journal-title":"Mol Biol Med"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1042\/cs0620193"},{"key":"e_1_2_1_8_1","first-page":"25","article-title":"Psychomotor development of children with mucopolysaccharidosis type I\u2010H following bone marrow transplantation","volume":"22","author":"Hugh\u2010Jones K","year":"1986","journal-title":"Birth Defects: Original Article Series"},{"key":"e_1_2_1_9_1","first-page":"261","volume-title":"Bone Marrow Transplantation in Children","author":"Krivit W","year":"1990"},{"key":"e_1_2_1_10_1","first-page":"1565","volume-title":"The Metabolic Basis of Inherited Disease","author":"Neufeld EF","year":"1989"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.21.9695"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(92)90053-U"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380010204"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380010412"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420439"},{"key":"e_1_2_1_16_1","first-page":"7","article-title":"Bone marrow transplantation for Hurler syndrome: assessment of metabolic correction","volume":"22","author":"Whitley CB","year":"1986","journal-title":"Birth Defects: Original Article Series"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF00711520","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF00711520","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T18:17:32Z","timestamp":1694801852000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF00711520"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,5,10]]},"references-count":15,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1993,11]]}},"alternative-id":["10.1007\/BF00711520"],"URL":"https:\/\/doi.org\/10.1007\/bf00711520","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,5,10]]}}}