{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T22:42:07Z","timestamp":1771368127598,"version":"3.50.1"},"reference-count":16,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2007,3,8]],"date-time":"2007-03-08T00:00:00Z","timestamp":1173312000000},"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":[[2007,8]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>We have initiated clinical selective screening for inborn errors of metabolism in China by analysing amino acids and acylcarnitines in a dried blood filter\u2010paper samples using tandem mass spectrometry. Samples from a total of 3070 children suspected of inborn errors of metabolism were collected through a study network which covered most provinces of China. The diagnoses were further confirmed through clinical symptoms, by gas chromatography\u2013mass spectrometry and other biochemistry studies, and in a few cases by DNA analysis. In all, 212 cases were diagnosed (6.6%) including 92 (43.4%) with amino acids disorders (48 with phenylketonuria, 12 with ornithine carbamoyltransferase deficiency, 7 with tyrosinaemia type I, 9 with maple syrup urine disease, 5 with citrullinaemia type I, 8 with citrullinaemia type II, 2 with homocystinuria, and 1 with argininaemia); 107 (50.5%) with organic acid disorders (including 58 with methylmalonic acidaemia, 13 with propionic acidaemia, 6 with isovaleric acidaemia, 7 with glutaric acidaemia type I, 6 with 3\u2010methylcrotonyl\u2010CoA carboxylase deficiency, 2 with 3\u2010hydroxy\u20103\u2010methylglutaryl\u2010CoA lyase deficiency, 10 with multiple carboxylase deficiency, and 5 with \u03b2\u2010ketothiolase deficiency); and 13 (6.1%) with fatty acid oxidation disorders (including 1 with carnitine palmitoyltransferase deficiency type I, 1 with carnitine palmitoyltransferase deficiency type II, 1 with short\u2010chain acyl\u2010CoA dehydrogenase deficiency, 5 with medium\u2010chain acyl\u2010CoA dehydrogenase deficiency, 3 with very long\u2010chain acyl\u2010CoA dehydrogenase deficiency, and 2 with multiple acyl\u2010CoA dehydrogenase deficiency). It is suggested that tandem mass spectrometry is useful for selective screening of clinically suspected patients. The majority of diseases (94%) in this study were amino acid disorders and organic acid disorders. Fatty acid oxidation disorders are relatively rare in the Chinese, but medium\u2010chain acyl\u2010CoA dehydrogenase deficiency should be further investigated.<\/jats:p>","DOI":"10.1007\/s10545-007-0543-9","type":"journal-article","created":{"date-parts":[[2007,3,8]],"date-time":"2007-03-08T11:17:28Z","timestamp":1173352648000},"page":"507-514","source":"Crossref","is-referenced-by-count":73,"title":["Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: A four\u2010year report"],"prefix":"10.1002","volume":"30","author":[{"given":"L. S.","family":"Han","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research Shanghai 200092 China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Ye","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research Shanghai 200092 China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. J.","family":"Qiu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research Shanghai 200092 China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"X. L.","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research Shanghai 200092 China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research Shanghai 200092 China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"X. F.","family":"Gu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research Shanghai 200092 China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,3,8]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinbiochem.2004.07.006"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/47.11.2040"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinbiochem.2005.01.017"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31180"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0228-9"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-003-1246-3"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20163"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30086"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0358-0"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.111.6.1399"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1570-0232(02)00077-6"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0188-4409(02)00402-2"},{"key":"e_1_2_1_14_1","first-page":"401","article-title":"A pilot study of selective screening in high risk children with inborn error of metabolism using tandem mass spectrometry","volume":"42","author":"Xuefan Gu","year":"2004","journal-title":"Chin J Pediatr"},{"key":"e_1_2_1_15_1","first-page":"331","article-title":"Clinical and laboratory screening studies on urea cycle defects","volume":"45","author":"Yang YL","year":"2005","journal-title":"Chin J Pediatr"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cccn.2004.11.032"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/47.11.1945"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-007-0543-9","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-007-0543-9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T04:33:46Z","timestamp":1694752426000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-007-0543-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,3,8]]},"references-count":16,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2007,8]]}},"alternative-id":["10.1007\/s10545-007-0543-9"],"URL":"https:\/\/doi.org\/10.1007\/s10545-007-0543-9","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,3,8]]}}}