{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T15:09:03Z","timestamp":1781795343969,"version":"3.54.5"},"reference-count":20,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2011,10,1]],"date-time":"2011-10-01T00:00:00Z","timestamp":1317427200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of the Neurological Sciences"],"published-print":{"date-parts":[[2011,10]]},"DOI":"10.1016\/j.jns.2011.06.052","type":"journal-article","created":{"date-parts":[[2011,7,28]],"date-time":"2011-07-28T02:23:27Z","timestamp":1311819807000},"page":"131-135","source":"Crossref","is-referenced-by-count":14,"title":["Mitochondrial neurogastrointestinal encephalopathy in an Indian family with possible manifesting carriers of heterozygous TYMP mutation"],"prefix":"10.1016","volume":"309","author":[{"given":"Atchayaram","family":"Nalini","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Narayanappa","family":"Gayathri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jns.2011.06.052_bb0005","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1212\/WNL.44.4.721","article-title":"Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder","volume":"44","author":"Hirano","year":"1994","journal-title":"Neurology"},{"key":"10.1016\/j.jns.2011.06.052_bb0010","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1097\/01.nrl.0000106919.06469.04","article-title":"MNGIE: A disease of two genomes","volume":"10","author":"Hirano","year":"2004","journal-title":"Neurologist"},{"key":"10.1016\/j.jns.2011.06.052_bb0015","doi-asserted-by":"crossref","first-page":"1913","DOI":"10.1172\/JCI17828","article-title":"Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency","volume":"111","author":"Nishigaki","year":"2003","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jns.2011.06.052_bb0020","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1002\/1531-8249(200006)47:6<792::AID-ANA12>3.0.CO;2-Y","article-title":"MNGIE: An Autosomal Recessive Disorder Due to Thymidine Phosphorylase Mutations","volume":"47","author":"Nishino","year":"2000","journal-title":"Ann Neurol"},{"key":"10.1016\/j.jns.2011.06.052_bb0025","doi-asserted-by":"crossref","first-page":"1086","DOI":"10.1212\/WNL.51.4.1086","article-title":"Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome","volume":"51","author":"Papadimitriou","year":"1998","journal-title":"Neurology"},{"key":"10.1016\/j.jns.2011.06.052_bb0030","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1126\/science.283.5402.689","article-title":"Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder","volume":"283","author":"Nishino","year":"1999","journal-title":"Science"},{"key":"10.1016\/j.jns.2011.06.052_bb0035","doi-asserted-by":"crossref","first-page":"1120","DOI":"10.2353\/ajpath.2008.080252","article-title":"Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion","volume":"173","author":"Giordano","year":"2008","journal-title":"Am J Pathol"},{"key":"10.1016\/j.jns.2011.06.052_bb0040","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1002\/ana.410280308","article-title":"Polyneuropathy, ophthalmoplegia, leukoencephalopathy and intestinal pseudoobstruction: POLIP syndrome","volume":"28","author":"Simon","year":"1990","journal-title":"Ann Neurol"},{"key":"10.1016\/j.jns.2011.06.052_bb0045","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1002\/mus.880170616","article-title":"Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy, myopathy, and gastrointestinal dysfunction with multiple deletions of mitochondrial DNA: a mitochondrial multisystem disorder in search of a name","volume":"17","author":"Uncini","year":"1994","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.jns.2011.06.052_bb0050","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1053\/j.gastro.2006.01.004","article-title":"Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine","volume":"130","author":"Giordano","year":"2006","journal-title":"Gastroenterology"},{"key":"10.1016\/j.jns.2011.06.052_bb0055","doi-asserted-by":"crossref","first-page":"1537","DOI":"10.2214\/ajr.182.6.1821537","article-title":"MRI of five patients with mitochondrial neurogastrointestinal encephalomyopathy","volume":"182","author":"Millar","year":"2004","journal-title":"AJR Am J Roentgenol"},{"key":"10.1016\/j.jns.2011.06.052_bb0060","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1111\/j.1468-1331.2007.01720.x","article-title":"Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation","volume":"14","author":"Carod-Artal","year":"2007","journal-title":"Eur J Neurol"},{"key":"10.1016\/j.jns.2011.06.052_bb0065","doi-asserted-by":"crossref","first-page":"1217","DOI":"10.1081\/NCN-200027485","article-title":"Thymidine phosphorylase deficiency causes MNGIE: an autosomal recessive mitochondrial disorder","volume":"23","author":"Hirano","year":"2004","journal-title":"Nucleosides Nucleotides Nucleic Acids"},{"key":"10.1016\/j.jns.2011.06.052_bb0070","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1002\/ana.20302","article-title":"Increased blood-brain barrier permeability with thymidine phosphorylase deficiency","volume":"56","author":"Szigeti","year":"2004","journal-title":"Ann Neurol"},{"key":"10.1016\/j.jns.2011.06.052_bb0075","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/S0006-291X(03)00294-8","article-title":"Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency","volume":"303","author":"Mart\u00ed","year":"2003","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.jns.2011.06.052_bb0080","doi-asserted-by":"crossref","first-page":"4128","DOI":"10.1074\/jbc.M111028200","article-title":"Altered thymidine metabolism due to defects of thymidine phosphorylase","volume":"277","author":"Spinazzola","year":"2002","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jns.2011.06.052_bb0085","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1038\/bmt.2010.100","article-title":"Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach","volume":"46","author":"Halter","year":"2011","journal-title":"Bone Marrow Transplant"},{"key":"10.1016\/j.jns.2011.06.052_bb0090","doi-asserted-by":"crossref","first-page":"1458","DOI":"10.1212\/01.wnl.0000240853.97716.24","article-title":"Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE","volume":"67","author":"Hirano","year":"2006","journal-title":"Neurology"},{"key":"10.1016\/j.jns.2011.06.052_bb0095","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1001\/archneur.64.3.435","article-title":"Treatment of mitochondrial neurogastrointestinal encephalomyopathy with dialysis","volume":"64","author":"Yavuz","year":"2007","journal-title":"Arch Neurol"},{"key":"10.1016\/j.jns.2011.06.052_bb0100","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1007\/s10540-007-9043-2","article-title":"Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): biochemical features and therapeutic approaches","volume":"27","author":"Lara","year":"2007","journal-title":"Biosci Rep"}],"container-title":["Journal of the Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X1100387X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X1100387X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,12,1]],"date-time":"2018-12-01T04:27:04Z","timestamp":1543638424000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022510X1100387X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,10]]},"references-count":20,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2011,10]]}},"alternative-id":["S0022510X1100387X"],"URL":"https:\/\/doi.org\/10.1016\/j.jns.2011.06.052","relation":{},"ISSN":["0022-510X"],"issn-type":[{"value":"0022-510X","type":"print"}],"subject":[],"published":{"date-parts":[[2011,10]]}}}