{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T05:28:07Z","timestamp":1793251687500,"version":"4.5.0"},"reference-count":29,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2016,6,23]],"date-time":"2016-06-23T00:00:00Z","timestamp":1466640000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Med Screen"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To estimate the burden of metabolic disorders detectable by tandem mass spectrometry in Egypt, through a pilot expanded newborn screening programme at Cairo University Children's Hospital in 2008, and examining the results of 3,900 clinically at-risk children, investigated at Cairo University Children\u2019s Hospital for the same disorders over the past 7 years using the same technology.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Dried blood spots of 25,276 healthy newborns from three governorates in Upper, Middle, and Lower Egypt were screened, to give a representative sample of the Egyptian newborn population. Based on the pilot study outcomes and the results of clinically suspected children, we estimated the total birth prevalence of tandem mass spectrometry detectable metabolic disorders, and the relative frequency of several individual disorders.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Among the healthy newborns, 13 metabolic disorder cases (five phenylketonuria [1:5,000], two methylmalonic acidemia, and isovaleric acidemia [1:12,500], one each of maple syrup urine disease, propionic acidemia, \u03b2-ketothiolase deficiency, and primary carnitine deficiency [1:25,000]) were confirmed, giving a total birth prevalence of 1:1944 live births. Among the clinically suspected children, 235 cases were diagnosed, representing a much wider disease spectrum.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Egypt has one of the highest reported birth prevalence rates for metabolic disorders detectable by tandem mass spectrometry. Early diagnosis and management are crucial for the survival and well-being of affected children. A nationwide NBS programme by tandem mass spectrometry is recommended.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/0969141315618229","type":"journal-article","created":{"date-parts":[[2016,1,20]],"date-time":"2016-01-20T22:03:50Z","timestamp":1453327430000},"page":"124-129","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":50,"title":["Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study"],"prefix":"10.1177","volume":"23","author":[{"given":"Fayza A","family":"Hassan","sequence":"first","affiliation":[{"name":"Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt"},{"name":"Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatma","family":"El-Mougy","sequence":"additional","affiliation":[{"name":"Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt"},{"name":"Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sahar A","family":"Sharaf","sequence":"additional","affiliation":[{"name":"Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt"},{"name":"Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iman","family":"Mandour","sequence":"additional","affiliation":[{"name":"Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt"},{"name":"Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marian F","family":"Morgan","sequence":"additional","affiliation":[{"name":"Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt"},{"name":"Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laila A","family":"Selim","sequence":"additional","affiliation":[{"name":"Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt"},{"name":"Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sawsan A","family":"Hassan","sequence":"additional","affiliation":[{"name":"Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt"},{"name":"Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fadia","family":"Salem","sequence":"additional","affiliation":[{"name":"Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt"},{"name":"Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Azza","family":"Oraby","sequence":"additional","affiliation":[{"name":"Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt"},{"name":"Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marian Y","family":"Girgis","sequence":"additional","affiliation":[{"name":"Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt"},{"name":"Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iman G","family":"Mahmoud","sequence":"additional","affiliation":[{"name":"Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amira","family":"El-Badawy","sequence":"additional","affiliation":[{"name":"Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ibrahim","family":"El-Nekhely","sequence":"additional","affiliation":[{"name":"Ministry of Health & Population, Cairo, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Moharam","sequence":"additional","affiliation":[{"name":"Ministry of Health & Population, Cairo, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dina A","family":"Mehaney","sequence":"additional","affiliation":[{"name":"Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt"},{"name":"Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed A","family":"Elmonem","sequence":"additional","affiliation":[{"name":"Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt"},{"name":"Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2016,6,23]]},"reference":[{"key":"bibr1-0969141315618229","doi-asserted-by":"publisher","DOI":"10.1542\/peds.32.3.338"},{"key":"bibr2-0969141315618229","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2005-0553"},{"key":"bibr3-0969141315618229","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/43.7.1129"},{"key":"bibr4-0969141315618229","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0228-9"},{"key":"bibr5-0969141315618229","doi-asserted-by":"publisher","DOI":"10.1542\/peds.111.6.1399"},{"key":"bibr6-0969141315618229","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa025225"},{"key":"bibr7-0969141315618229","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2009.131300"},{"key":"bibr8-0969141315618229","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2008-0911"},{"key":"bibr9-0969141315618229","doi-asserted-by":"publisher","DOI":"10.1053\/j.semperi.2009.12.007"},{"key":"bibr10-0969141315618229","unstructured":"Egyptian Central Agency for Public Mobilization & Statistics (CAPMAS). Egypt in Figures, 2014."},{"key":"bibr11-0969141315618229","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0660-5"},{"key":"bibr12-0969141315618229","doi-asserted-by":"publisher","DOI":"10.1016\/S0146-0005(99)80050-0"},{"key":"bibr13-0969141315618229","doi-asserted-by":"crossref","unstructured":"Khneisser I, Adib S, Assaad S, et\u00a0al. Cost-benefit analysis: Newborn screening for inborn errors of metabolism in Lebanon.\n                      J Med Screen\n                      2015; 22: 182\u2013186.","DOI":"10.1177\/0969141315590675"},{"key":"bibr14-0969141315618229","first-page":"6","volume":"8","author":"Tadmouri GO","year":"2009","journal-title":"Reprod Health"},{"key":"bibr15-0969141315618229","volume-title":"Biostatistics. A foundation for analysis in the health sciences","author":"Daniel WW","year":"1999","edition":"7"},{"key":"bibr16-0969141315618229","first-page":"9","volume":"1","author":"Naing L","year":"2006","journal-title":"Arch Orofacial Sci"},{"key":"bibr17-0969141315618229","first-page":"1425","volume":"5","author":"Hassan F","year":"2009","journal-title":"J Appl Sci Res"},{"key":"bibr18-0969141315618229","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31820d5e67"},{"key":"bibr19-0969141315618229","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.2"},{"key":"bibr20-0969141315618229","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinbiochem.2014.04.002"},{"key":"bibr21-0969141315618229","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.76"},{"key":"bibr22-0969141315618229","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-44"},{"key":"bibr23-0969141315618229","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-008-0965-z"},{"key":"bibr24-0969141315618229","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.09.021"},{"key":"bibr25-0969141315618229","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9129-z"},{"key":"bibr26-0969141315618229","first-page":"13","volume":"37","author":"Yamaguchi S","year":"2008","journal-title":"Ann Acad Med Singapore"},{"key":"bibr27-0969141315618229","unstructured":"Driscoll CJ and McPherson B. Newborn screening systems: The complete perspective. In:\n                      Newborn diseases and disorders\n                      . San Diego: Pleural Publishing, 2010, pp.49\u201366."},{"key":"bibr28-0969141315618229","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2005-2633G"},{"key":"bibr29-0969141315618229","doi-asserted-by":"publisher","DOI":"10.1111\/j.1524-4733.2006.00156.x"}],"container-title":["Journal of Medical Screening"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0969141315618229","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0969141315618229","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0969141315618229","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T23:23:45Z","timestamp":1777677825000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0969141315618229"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,6,23]]},"references-count":29,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2016,9]]}},"alternative-id":["10.1177\/0969141315618229"],"URL":"https:\/\/doi.org\/10.1177\/0969141315618229","relation":{},"ISSN":["0969-1413","1475-5793"],"issn-type":[{"value":"0969-1413","type":"print"},{"value":"1475-5793","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,6,23]]}}}