The diseases included in this group of neonatal diabetes manifest before or shortly after birth. Two subgroups can be distinguished, permanent and transient neonatal diabetes.
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Støy J et al. (2007) Insulin gene mutations as a cause of permanent neonatal diabetes. |
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Flechtner I et al. (2006) Diabetes and hypoglycaemia in young children and mutations in the Kir6.2 subunit of the potassium channel: therapeutic consequences. |
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Arthur EI et al. () Transient neonatal diabetes mellitus in a child with invdup(6)(q22q23) of paternal origin. |
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Stanik J et al. (2007) Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. |
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Pearson ER et al. (2006) Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. |
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Zung A et al. (2004) Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2. |
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Gloyn AL et al. (2002) Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes. |
8. |
None (2000) Neonatal diabetes: new insights into aetiology and implications. |
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Shimomura K et al. (2007) A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain. |
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Gloyn AL et al. (2006) KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features. |
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Massa O et al. (2005) KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. |
12. |
Gloyn AL et al. (2004) Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. |
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Babenko AP et al. (2006) Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. |
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Proks P et al. (2006) A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. |
15. |
Suzuki S et al. (2007) Molecular basis of neonatal diabetes in Japanese patients. |
16. |
Colombo C et al. (2008) Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus. |
19. |
Njølstad PR et al. (2001) Neonatal diabetes mellitus due to complete glucokinase deficiency. |
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Orphanet article Orphanet ID 224 |
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Wikipedia article Wikipedia EN (Neonatal_diabetes_mellitus) |