{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T18:41:07Z","timestamp":1792089667693,"version":"4.4.0"},"reference-count":0,"publisher":"Necmettin Erbakan University Press","issue":"01","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare multisystem autosomal recessive disorder. The disease is clinically heterogeneous with gastrointestinal symptoms of intestinal dysmotility and cachexia as well as neurological symptoms of ophthalmoplegia, neuropathy, sensorineural hearing impairment, and diffuse leukoencephalopathy being most prominent. MNGIE is caused by mutations in TYMP, a gene that encodes thymidine phosphorylase (TP)\u2014a cytosolic enzyme. Mutations in TYMP lead to very low TP catalytic activity, resulting in dramatically increased thymidine and deoxyuridine in plasma. We describe the clinical, biochemical, and neuroimaging findings of three boys with MNGIE from a Pakistani family with a novel homozygous mutation, c.798_801dupCGCG p. (Ala268Argfs*?), in exon 7 of TYMP.<\/jats:p>","DOI":"10.1055\/s-0038-1661411","type":"journal-article","created":{"date-parts":[[2018,6,30]],"date-time":"2018-06-30T18:59:55Z","timestamp":1530385195000},"page":"015-019","source":"Crossref","is-referenced-by-count":6,"title":["Mitochondrial Neurogastrointestinal Encephalomyopathy Disease in Three Siblings from Pakistan with a Novel Mutation"],"prefix":"10.53391","volume":"08","author":[{"given":"Sana","family":"Durrani","sequence":"first","affiliation":[{"name":"Aga Khan Medical College, Karachi, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bee","family":"Chen","sequence":"first","affiliation":[{"name":"Unit of Biochemical Genetics, Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yusnita","family":"Yakob","sequence":"first","affiliation":[{"name":"Unit of Molecular Diagnostics and Protein, Institute for Medical Research, Kuala Lumpur, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lua","family":"Hian","sequence":"first","affiliation":[{"name":"Unit of Molecular Diagnostics and Protein, Institute for Medical Research, Kuala Lumpur, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bushra","family":"Afroze","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Child Health, Aga Khan University Hospital, Karachi, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"31409","published-online":{"date-parts":[[2018,6,30]]},"container-title":["Journal of Pediatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0038-1661411.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T19:45:35Z","timestamp":1758138335000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0038-1661411"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,6,30]]},"references-count":0,"journal-issue":{"issue":"01","published-online":{"date-parts":[[2019,2,14]]},"published-print":{"date-parts":[[2019,3]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0038-1661411","relation":{},"ISSN":["2146-4596","2146-460X"],"issn-type":[{"value":"2146-4596","type":"print"},{"value":"2146-460X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,6,30]]}}}