دورية أكاديمية
Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation
| العنوان: | Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation |
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| المؤلفون: | Thomas, Inas H., Saini, Natinder K., Adhikari, Amita, Lee, Joyce M., Kasa-Vubu, Josephine Z., Vazquez, Delia M., Menon, Ram K., Chen, Ming, Fajans, Stefan S. |
| المساهمون: | Department of Pediatrics and Communicable Diseases (Division of Pediatric Endocrinology), University of Michigan Health Center, Ann Arbor, MI, USA, Department of Molecular and Integrative Physiology, University of Michigan Health Center, Ann Arbor, MI, USA, Department of Internal Medicine (Division of Metabolism, Endocrinology and Diabetes), University of Michigan Health Center, Ann Arbor, MI, USA |
| بيانات النشر: | Blackwell Publishing Ltd |
| سنة النشر: | 2009 |
| المجموعة: | University of Michigan: Deep Blue |
| مصطلحات موضوعية: | IPF-1, Neonatal Diabetes, Pancreatic Agenesis, Pediatrics, Health Sciences |
| الوصف: | Peer Reviewed ; http://deepblue.lib.umich.edu/bitstream/2027.42/75447/1/j.1399-5448.2009.00526.x.pdfTest |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | 499897 bytes; 3109 bytes; application/pdf; text/plain |
| اللغة: | unknown |
| تدمد: | 1399-543X 1399-5448 |
| العلاقة: | Thomas, Inas H; Saini, Natinder K; Adhikari, Amita; Lee, Joyce M; Kasa-vubu, Josephine Z; Vazquez, Delia M; Menon, Ram K; Chen, Ming; Fajans, Stefan S (2009). "Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation." Pediatric Diabetes 10(7): 492-496.; https://hdl.handle.net/2027.42/75447Test; http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=19496967&dopt=citationTest; Pediatric Diabetes; von Muhlendah KE, Herkenhoff H. Long-term course of neonatal diabetes. N Engl J Med 1995: 333: 704 – 708.; Sperling MA. Neonatal diabetes mellitus: from understudy to center stage. Curr Opin Pediatr 2005: 17: 512 – 518.; Gloyn AL, Pearson ER, Antcliff JF et al. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med 2004: 350: 1838 – 1849.; Stoffers DA, Zinkin NT, Stanojevic V, Clarke WL, Habener JF. Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. Nat Genet 1997: 15: 106 – 110.; Njolstad PR, Sovik O, Cuesta-Munoz A et al. Neonatal diabetes mellitus due to complete glucokinase deficiency. N Engl J Med 2001: 344: 1588 – 1592.; Wright NM, Metzger DL, Borowitz SM, Clarke WL. Permanent neonatal diabetes-mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis. Am J Dis Child 1993: 147: 607 – 609.; Schwitzgebel VM, Mamin A, Brun T et al. Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1. J Clin Endocrinol Metab 2003: 88: 4398 – 4406.; Puukka R, Puukka M. Effect of hemoglobin F on measurements of hemoglobin A1c with physicians’ office analyzers. Clin Chem 1994: 40: 342 – 343.; Wiegand S, Raile K, Reinehr T et al. Daily insulin requirement of children and adolescents with type 1 diabetes: effect of age, gender, body mass index and mode of therapy. Eur J Endocrinol 2008: 158: 543 – 549.; Bharucha T, Brown J, McDonnell C et al. Neonatal diabetes mellitus: Insulin pump as an alternative management strategy. J Paediatr Child Health 2005: 41: 522 – 526.; Wintergerst KA, Hargadon S, Hsiang HY. Continuous subcutaneous insulin infusion in neonatal diabetes mellitus. Pediatr Diabetes 2004: 5: 202 – 206.; Edghill EL, Flanagan SE, Patch AM et al. Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes 2008: 57: 1034 – 1042.; Baumeister FAM, Engelsberger I, Schulze A. Pancreatic agenesis as cause for neonatal diabetes mellitus. Klinische Padiatrie 2005: 217: 76 – 81.; Yorifuji T, Matsumura M, Okuno T et al. Hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease: a new syndrome? J Med Genet 1994: 31: 331 – 333.; Mitchell J, Punthakee Z, Lo B et al. Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome. Diabetologia 2004: 47: 2160 – 2167.; Kobayashi I, Shiari R, Yamada M et al. Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX). J Med Genet 2001: 38: 874 – 876.; Oliver-Krasinski JM, Stoffers DA. On the origin of the Β cell. Genes Dev 2008: 22: 1998 – 2021.; Habener JF, Kemp DM, Thomas MK. Minireview: transcriptional regulation in pancreatic development. Endocrinology 2005: 146: 1025 – 1034.; Ahlgren U, Jonsson J, Edlund H. The morphogenesis of the pancreatic mesenchyme is uncoupled from that of the pancreatic epithelium in IPF1/PDX1-deficient mice. Development 1996: 122: 1409 – 1416.; Chen R, Hussain K, Al-Ali M et al. Neonatal and late-onset diabetes mellitus caused by failure of pancreatic development: report of 4 more cases and a review of the literature. Pediatrics 2008: 121: e1541 – e1547. |
| DOI: | 10.1111/j.1399-5448.2009.00526.x |
| الإتاحة: | https://doi.org/10.1111/j.1399-5448.2009.00526.xTest https://hdl.handle.net/2027.42/75447Test http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=19496967&dopt=citationTest |
| حقوق: | © 2009 John Wiley & Sons A/S |
| رقم الانضمام: | edsbas.A5B02D89 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 1399543X 13995448 |
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| DOI: | 10.1111/j.1399-5448.2009.00526.x |