메뉴 건너뛰기




Volumn 7, Issue 5, 2006, Pages 279-283

Permanent neonatal diabetes with arthrogryposis multiplex congenita and neurogenic bladder - A new syndrome?

Author keywords

Arthrogryposis multiplex; Neurogenic bladder; PNDM

Indexed keywords

GLUCOKINASE; GLUCOSE; HEMOGLOBIN A1C; IMMUNOGLOBULIN; INSULIN; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; ISOPHANE INSULIN;

EID: 33750124274     PISSN: 1399543X     EISSN: 13995448     Source Type: Journal    
DOI: 10.1111/j.1399-5448.2006.00201.x     Document Type: Article
Times cited : (6)

References (26)
  • 1
    • 1642430590 scopus 로고    scopus 로고
    • Neonatal and very-early onset diabetes mellitus
    • Polak M, Shield J. Neonatal and very-early onset diabetes mellitus. Semin Neonatol 2004: 9: 59-65.
    • (2004) Semin Neonatol , vol.9 , pp. 59-65
    • Polak, M.1    Shield, J.2
  • 2
    • 19944427182 scopus 로고    scopus 로고
    • KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes
    • Massa O, Iafusco D, D'Amato E et al. KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. Hum Mutat 2004: 25: 22-27.
    • (2004) Hum Mutat , vol.25 , pp. 22-27
    • Massa, O.1    Iafusco, D.2    D'Amato, E.3
  • 6
    • 0031394680 scopus 로고    scopus 로고
    • Etiopathology and genetic basis of neonatal diabetes
    • Shield JP, Gardner RJ, Wadsworth EJ et al. Etiopathology and genetic basis of neonatal diabetes. Arch Dis Child 1997: 76: 39-42.
    • (1997) Arch Dis Child , vol.76 , pp. 39-42
    • Shield, J.P.1    Gardner, R.J.2    Wadsworth, E.J.3
  • 7
    • 0015288961 scopus 로고
    • Infancy onset diabetes mellitus and multiple epiphyseal dysplasia
    • Wolcott CD, Rallison ML. Infancy onset diabetes mellitus and multiple epiphyseal dysplasia. J Pediatr 1972: 80: 292-297.
    • (1972) J Pediatr , vol.80 , pp. 292-297
    • Wolcott, C.D.1    Rallison, M.L.2
  • 8
    • 0032847052 scopus 로고    scopus 로고
    • Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis: Report of an association in three members of a consanguineous family
    • Hoveyda N, Shield JPH, Garrett C et al. Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis: Report of an association in three members of a consanguineous family. J Med Genet 1999: 36: 700-704.
    • (1999) J Med Genet , vol.36 , pp. 700-704
    • Hoveyda, N.1    Shield, J.P.H.2    Garrett, C.3
  • 9
    • 0029894371 scopus 로고    scopus 로고
    • X linked immune regulation, neonatal insulin dependent diabetes mellitus and intractable diarrhea
    • Peake JE, Mc Crossin RB, Byrne G, Shepherd R. X linked immune regulation, neonatal insulin dependent diabetes mellitus and intractable diarrhea. Arch Dis Child 1996: 74: 195-199.
    • (1996) Arch Dis Child , vol.74 , pp. 195-199
    • Peake, J.E.1    Mc Crossin, R.B.2    Byrne, G.3    Shepherd, R.4
  • 10
    • 19944431807 scopus 로고    scopus 로고
    • Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: Search for the etiology of a new autosomal recessive syndrome
    • Mitchell J, Punthakee Z, Lo B et al. Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: Search for the etiology of a new autosomal recessive syndrome. Diabetologia 2004: 47: 2160-2167.
    • (2004) Diabetologia , vol.47 , pp. 2160-2167
    • Mitchell, J.1    Punthakee, Z.2    Lo, B.3
  • 11
    • 0033925613 scopus 로고    scopus 로고
    • Neonatal diabetes: New insights into etiology and implications
    • Shield JP. Neonatal diabetes: New insights into etiology and implications. Horm Res 2000: 53: 7-11.
    • (2000) Horm Res , vol.53 , pp. 7-11
    • Shield, J.P.1
  • 12
    • 0033652302 scopus 로고    scopus 로고
    • Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities
    • Das S, Lese M, Song M et al. Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities. Am J Hum Genet 2000: 67: 1586-1591.
    • (2000) Am J Hum Genet , vol.67 , pp. 1586-1591
    • Das, S.1    Lese, M.2    Song, M.3
  • 13
    • 0033962830 scopus 로고    scopus 로고
    • Transient but permanent neonatal diabetes mellitus is associated with paternal uniparental isodisomy of chromosome 6
    • Hermann R, Laine AP, Johansson C et al. Transient but permanent neonatal diabetes mellitus is associated with paternal uniparental isodisomy of chromosome 6. Pediatrics 2000: 105: 49-52.
    • (2000) Pediatrics , vol.105 , pp. 49-52
    • Hermann, R.1    Laine, A.P.2    Johansson, C.3
  • 15
    • 0034163575 scopus 로고    scopus 로고
    • An imprinted locus associated with transient neonatal diabetes mellitus
    • Gardner RJ, Mackay DJ, Mungall AJ et al. An imprinted locus associated with transient neonatal diabetes mellitus. Hum Mol Genet 2000: 9: 589-596.
    • (2000) Hum Mol Genet , vol.9 , pp. 589-596
    • Gardner, R.J.1    Mackay, D.J.2    Mungall, A.J.3
  • 16
    • 0035394667 scopus 로고    scopus 로고
    • A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus
    • Arima T, Drewell RA, Arney KL et al. A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus. Hum Mol Genet 2001: 10: 1475-1483.
    • (2001) Hum Mol Genet , vol.10 , pp. 1475-1483
    • Arima, T.1    Drewell, R.A.2    Arney, K.L.3
  • 17
    • 0031705401 scopus 로고    scopus 로고
    • Fanconi-Bickel syndrome - The original patient and his natural history, historical steps leading to the primary defect, and a review of the literature
    • Santer R, Schneppenheim R, Suter D, Schaub J, Steinmann B. Fanconi-Bickel syndrome - the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature. Eur J Pediatr 1998: 157: 783-797.
    • (1998) Eur J Pediatr , vol.157 , pp. 783-797
    • Santer, R.1    Schneppenheim, R.2    Suter, D.3    Schaub, J.4    Steinmann, B.5
  • 18
    • 0029015102 scopus 로고
    • Diabetes like renal glomerular disease in Fanconi-Bickel syndrome
    • Berry GT, Baker L, Kaplan FS, Witzleben CL. Diabetes like renal glomerular disease in Fanconi-Bickel syndrome. Pediatr Nephrol 1995: 9: 287-291.
    • (1995) Pediatr Nephrol , vol.9 , pp. 287-291
    • Berry, G.T.1    Baker, L.2    Kaplan, F.S.3    Witzleben, C.L.4
  • 19
    • 28444434811 scopus 로고    scopus 로고
    • IPEX and FOXP3: Clinical and research perspectives
    • Wildin RS, Freitas A. IPEX and FOXP3: Clinical and research perspectives. J Autoimmun 2005: 25 (Suppl): 56-62.
    • (2005) J Autoimmun , vol.25 , Issue.SUPPL. , pp. 56-62
    • Wildin, R.S.1    Freitas, A.2
  • 20
    • 23344439106 scopus 로고    scopus 로고
    • Neonatal diabetes mellitus: From understudy to center stage
    • Sperling MA. Neonatal diabetes mellitus: From understudy to center stage. Curr Opin Pediatr 2005: 17: 512-518.
    • (2005) Curr Opin Pediatr , vol.17 , pp. 512-518
    • Sperling, M.A.1
  • 21
    • 0031031571 scopus 로고    scopus 로고
    • Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence
    • 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.
    • (1997) Nat Genet , vol.15 , pp. 106-110
    • Stoffers, D.A.1    Zinkin, N.T.2    Stanojevic, V.3    Clarke, W.L.4    Habener, J.F.5
  • 22
    • 0017704624 scopus 로고
    • Congenital absence of islets of Langerhans
    • Dodge JA, Laurance KM. Congenital absence of islets of Langerhans. Arch Dis Child 1977: 52: 411-419.
    • (1977) Arch Dis Child , vol.52 , pp. 411-419
    • Dodge, J.A.1    Laurance, K.M.2
  • 23
    • 33744466577 scopus 로고    scopus 로고
    • Aetiological heterogeneity of asymptomatic hyperglycaemia in children and adolescents
    • [Epub ahead of print]
    • Feigerlova E, Pruhova S, Dittertova L et al. Aetiological heterogeneity of asymptomatic hyperglycaemia in children and adolescents. Eur J Pediatr 2006; 7 [Epub ahead of print].
    • (2006) Eur J Pediatr , pp. 7
    • Feigerlova, E.1    Pruhova, S.2    Dittertova, L.3
  • 24
    • 2342633204 scopus 로고    scopus 로고
    • Activating mutations in the gene encoding the ATP sensitive potassium subunit Kir6.2 and permanent neonatal diabetes
    • Gloyn AL, Pearson ER, Antcliff JF et al. Activating mutations in the gene encoding the ATP sensitive potassium subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med 2004: 350: 1838-1849.
    • (2004) N Engl J Med , vol.350 , pp. 1838-1849
    • Gloyn, A.L.1    Pearson, E.R.2    Antcliff, J.F.3
  • 25
    • 3543067962 scopus 로고    scopus 로고
    • Neurodegenerative disorders associated with diabetes mellitus
    • Ristow M. Neurodegenerative disorders associated with diabetes mellitus. J Mol Med 2004: 82: 510-529.
    • (2004) J Mol Med , vol.82 , pp. 510-529
    • Ristow, M.1
  • 26
    • 0028808309 scopus 로고
    • Neurodegeneration and diabetes: UK nationwide study of Wolfram syndrome
    • Barret TG, Bundey SE, Macleod AF. Neurodegeneration and diabetes: UK nationwide study of Wolfram syndrome. Lancet 1995: 346: 1458-1463.
    • (1995) Lancet , vol.346 , pp. 1458-1463
    • Barret, T.G.1    Bundey, S.E.2    Macleod, A.F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.