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线粒体脑肌病肌阵挛癫痫伴破碎样红纤维伴反复胰腺炎发作1例 被引量:3

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出处 《中国实用儿科杂志》 CSCD 北大核心 1999年第11期698-698,共1页 Chinese Journal of Practical Pediatrics
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  • 2van den OuwelandJM, LemkesHH, RuitenbeekW, et al. Mutation in mitochondrial tRNA(Leu)(UUR)gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness[J]. Nat Genet, 1992,1(5):368-371. DOI: 10.1038/ng0892-368.
  • 3GotoY, NonakaI, HoraiS. A mutation in the tRNA(Leu)(UUR)gene associated with the MELAS subgroup of mitochondrial encephalomyopathies[J]. Nature, 1990,348(6302):651-653. DOI: 10.1038/348651a0.
  • 4MaassenJA, 'T HartLM, Van EssenE, et al. Mitochondrial diabetes: molecular mechanisms and clinical presentation[J]. Diabetes, 2004,53(Suppl 1):S103-S109.
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  • 6KishnaniPS, Van HoveJL, ShoffnerJS, et al. Acute pancreatitis in an infant with lactic acidosis and a mutation at nucleotide 3243 in the mitochondrial DNA tRNALeu(UUR)gene[J]. Eur J Pediatr, 1996,155(10):898-903.
  • 7VernyC, Amati-BonneauP, LetournelF, et al. Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis[J]. Diabetes Metab, 2008,34(6Pt 1):620-626. DOI: 10.1016/j.diabet.2008.06.001.
  • 8PagonRA, AdamMP, ArdingerHH, et al. GeneReviews[M]. Seattle(WA): University of Washington, 2014.1993-2016.
  • 9MazzaccaraC, IafuscoD, LiguoriR, et al. Mitochondrial diabetes in children: seek and you will find it[J]. PLoS One, 2012,7(4):e34956. DOI: 10.1371/journal.pone.0034956.
  • 10KishimotoM, HashiramotoM, KandaF, et al. Mitochondrial mutation in diabetic patient with gastrointestinal symptoms[J]. Lancet, 1995,345(8947):452.

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