{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T13:51:07Z","timestamp":1781531467499,"version":"3.54.5"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[1986,1,14]],"date-time":"1986-01-14T00:00:00Z","timestamp":506044800000},"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":[[1987,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We measured the activities of two major forms of \u03b1\u2010glucosidase in lymphocytes and cultured fibroblasts from normal healthy controls and patients with Pompe's disease by using 4\u2010methylumbelliferyl\u2010\u03b1\u2010<jats:sc>d<\/jats:sc>\u2010glucoside as substrate. We found (1) enzyme activity of the pH4 and pH6 forms varied with age, and (2) patients with Pompe's disease showed very low activity of the pH4 form and a low ratio of pH4 to pH6 forms. We established a reference range and were also able to diagnose prenatally the homozygote and heterozygote forms of Pompe's disease which occurred in families of southern Chinese and aborigines in Taiwan. This enzyme biochemical study may be useful in anthropology.<\/jats:p>","DOI":"10.1007\/bf01799482","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T16:54:27Z","timestamp":1119372867000},"page":"11-17","source":"Crossref","is-referenced-by-count":32,"title":["Pompe's disease in Chinese and prenatal diagnosis by determination of \u03b1\u2010glucosidase activity"],"prefix":"10.1002","volume":"10","author":[{"given":"C. \u2010Y.","family":"Lin","sequence":"first","affiliation":[{"name":"Departments of Medical Research and Pediatrics Veterans General Hospital  Shih\u2010Pai Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Hwang","sequence":"additional","affiliation":[{"name":"Departments of Medical Research and Pediatrics Veterans General Hospital  Shih\u2010Pai Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. \u2010J.","family":"Hsiao","sequence":"additional","affiliation":[{"name":"Departments of Medical Research and Pediatrics Veterans General Hospital  Shih\u2010Pai Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y. \u2010R.","family":"Jin","sequence":"additional","affiliation":[{"name":"Departments of Medical Research and Pediatrics Veterans General Hospital  Shih\u2010Pai Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[1986,1,14]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1972.00490100074007"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(78)90517-X"},{"key":"e_1_2_1_4_1","first-page":"152","volume-title":"The Metabolic Basis of Inherited Disease","author":"Howell R. R.","year":"1983"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(74)90319-2"},{"key":"e_1_2_1_6_1","unstructured":"Ku E. T.Glycogen storage disease type II. The 92nd Scientific Meeting of the Pediatric Association of the Republic of China (1983)."},{"key":"e_1_2_1_7_1","unstructured":"Lin C. Y.Prenatal diagnosis of glycogen storage disease type II. The 100th Scientific Meeting of the Pediatric Association of the Republic of China (1984)."},{"key":"e_1_2_1_8_1","first-page":"405","article-title":"A study of saturated very long chain fatty acid in skin fibroblast and plasma of adrenoleukodystrophy patients","volume":"26","author":"Lin C. Y.","year":"1985","journal-title":"Acta Paediatr. Sinica"},{"key":"e_1_2_1_9_1","first-page":"98","volume-title":"The Variability of Pompe's Disease (1st edn.)","author":"Loonen M. C. 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C.","year":"1982","journal-title":"Ned. T. Geneesk."},{"key":"e_1_2_1_17_1","first-page":"132","article-title":"Biochemical, immunological, and cell genetic studies in glycogenosis type II","volume":"30","author":"Reuser A. J. J.","year":"1978","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_1_18_1","first-page":"246","volume-title":"Fundamentals of Biostatistics","author":"Rosner B.","year":"1982"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(71)80393-1"},{"key":"e_1_2_1_20_1","unstructured":"Wang T. R.Glycogen storage disease (Type I) \u2014 diagnosed with liver enzyme quantitation. The 90th Scientific Meeting of the Pediatric Association of the Republic of China (1982)."},{"key":"e_1_2_1_21_1","unstructured":"Wu C. R.Diagnosis of Pompe's disease. The 13th Scientific Meeting of the China Medical Association (1985)."}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01799482","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01799482","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,17]],"date-time":"2023-09-17T03:25:18Z","timestamp":1694921118000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF01799482"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1986,1,14]]},"references-count":20,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1987,3]]}},"alternative-id":["10.1007\/BF01799482"],"URL":"https:\/\/doi.org\/10.1007\/bf01799482","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1986,1,14]]}}}