{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T10:41:58Z","timestamp":1773657718890,"version":"3.50.1"},"reference-count":10,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[1990,5,10]],"date-time":"1990-05-10T00:00:00Z","timestamp":642297600000},"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":[[1991,3]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Results are presented of \u03b1\u2010<jats:sc>l<\/jats:sc>\u2010iduronidase assays in the leukocytes of normal individuals, patients with Hurler disease and heterozygous carriers. The assays were carried out using 4\u2010methylumbelliferyl\u2010\u03b1\u2010<jats:sc>l<\/jats:sc>\u2010iduronide and 4\u2010trifluoromethylumbelliferyl\u2010\u03b1\u2010<jats:sc>l<\/jats:sc>\u2010iduronide as substrates. It was shown that 4\u2010trifluoromethylumbelliferyl\u2010\u03b1\u2010<jats:sc>l<\/jats:sc>\u2010iduronide, along with the commonly used 4\u2010methylumbelliferyl\u2010\u03b1\u2010<jats:sc>l<\/jats:sc>\u2010iduronide, can serve as a specific substrate for \u03b1\u2010<jats:sc>l<\/jats:sc>\u2010iduronidase and is therefore suitable for demonstrating the enzyme deficiency in patients with Hurler disease, as well as the decrease of enzyme activity in heterozygous disease carriers. Using the two substrates a prenatal diagnosis of Hurler disease in a fetus was made on the basis of the lack of enzyme activity in amniotic fluid cell cultures. The diagnosis was confirmed by the results of \u03b1\u2010<jats:sc>l<\/jats:sc>\u2010iduronidase activity assay in fetal liver and kidney. It was found that 4\u2010trifluoromethylumbelliferyl\u2010\u03b1\u2010<jats:sc>l<\/jats:sc>\u2010iduronide is highly efficient for the rapid detection of \u03b1\u2010<jats:sc>l<\/jats:sc>\u2010iduronidase deficiency directly in pieces of tissues and in placenta, which is important for the prenatal diagnosis of Hurler disease.<\/jats:p>","DOI":"10.1007\/bf01800585","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T17:15:11Z","timestamp":1119374111000},"page":"134-139","source":"Crossref","is-referenced-by-count":4,"title":["Use of 4\u2010trifluoromethylumbelliferyl\u2010\u03b1\u2010<scp>l<\/scp>\u2010iduronide as a new substrate for detection of \u03b1\u2010<scp>l<\/scp>\u2010iduronidase deficiency in human tissues and for rapid prenatal diagnosis of Hurler disease"],"prefix":"10.1002","volume":"14","author":[{"given":"I. V.","family":"Tsvetkova","sequence":"first","affiliation":[{"name":"Institute of Biological and Medical Chemistry USSR Academy of Medical Sciences  Pogodinskaya St. 10 Moscow 119832 USSR"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. A.","family":"Karpova","sequence":"additional","affiliation":[{"name":"Institute of Biological and Medical Chemistry USSR Academy of Medical Sciences  Pogodinskaya St. 10 Moscow 119832 USSR"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y. V.","family":"Voznyi","sequence":"additional","affiliation":[{"name":"Institute of Biochemistry of the Armenian Academy of Sciences  USSR"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T. V.","family":"Zolotukhina","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics USSR Academy of Medical Sciences  Moscow USSR"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V. V.","family":"Biryukov","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics USSR Academy of Medical Sciences  Moscow USSR"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. N.","family":"Semyachkina","sequence":"additional","affiliation":[{"name":"Institute of Paediatrics and Child Surgery of RSFSR Ministry of Public Health  USSR"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1990,5,10]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(84)90215-8"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970050505"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970070608"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(79)90121-9"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)52451-6"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1177\/34.5.3084625"},{"key":"e_1_2_1_8_1","first-page":"70","article-title":"Prenatal diagnosis of hereditary enzymopathies","volume":"8","author":"Tsvetkova I. V.","year":"1984","journal-title":"Vestnik AMN SSSR"},{"key":"e_1_2_1_9_1","first-page":"1411","article-title":"A convenient synthesis of fluorogenic glycosides of \u03b1\u2010l\u2010iduronide acid","volume":"15","author":"Voznyi Y. V.","year":"1989","journal-title":"Bioorg. Khim."},{"key":"e_1_2_1_10_1","first-page":"1665","article-title":"A new fluorogenic substrate for human galactocerebroside \u03b2\u2010d\u2010galactosidase","volume":"50","author":"Wiederschain G. Y.","year":"1985","journal-title":"Biokhimiya"},{"key":"e_1_2_1_11_1","first-page":"1014","article-title":"The study of specificity of human lysosomal glycolipidhydrolases by means of synthetic fluorogenic substrates","volume":"14","author":"Wiederschain G. Y.","year":"1988","journal-title":"Bioorg. Khim."}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01800585","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01800585","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,17]],"date-time":"2023-09-17T05:13:07Z","timestamp":1694927587000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF01800585"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,5,10]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1991,3]]}},"alternative-id":["10.1007\/BF01800585"],"URL":"https:\/\/doi.org\/10.1007\/bf01800585","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,5,10]]}}}