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Year Number of Results
2003 1
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2012 4
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Page 1
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
Osbak KK, Colclough K, Saint-Martin C, Beer NL, Bellanné-Chantelot C, Ellard S, Gloyn AL. Osbak KK, et al. Hum Mutat. 2009 Nov;30(11):1512-26. doi: 10.1002/humu.21110. Hum Mutat. 2009. PMID: 19790256 Review.
Homozygous inactivating GCK mutations result in a more severe phenotype presenting at birth as permanent neonatal diabetes mellitus (PNDM). A growing number of heterozygous activating GCK mutations that cause hypoglycemia have also been reported. ...
Homozygous inactivating GCK mutations result in a more severe phenotype presenting at birth as permanent neonatal diabetes …
Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants.
Rubio-Cabezas O, Klupa T, Malecki MT; CEED3 Consortium. Rubio-Cabezas O, et al. Eur J Clin Invest. 2011 Mar;41(3):323-33. doi: 10.1111/j.1365-2362.2010.02409.x. Epub 2010 Nov 4. Eur J Clin Invest. 2011. PMID: 21054355 Review.
RESULTS: Over the last decade, mutations in about a dozen of genes have been linked to the development of Permanent Neonatal Diabetes Mellitus (PNDM). The most frequent causes of PNDM are heterozygous mutations in the KCNJ11, INS and ABCC8 genes. ...
RESULTS: Over the last decade, mutations in about a dozen of genes have been linked to the development of Permanent Neonatal …
Genetic Factors of Diabetes.
Antosik K, Borowiec M. Antosik K, et al. Arch Immunol Ther Exp (Warsz). 2016 Dec;64(Suppl 1):157-160. doi: 10.1007/s00005-016-0432-8. Epub 2017 Jan 12. Arch Immunol Ther Exp (Warsz). 2016. PMID: 28083605 Free article. Review.
All subtypes of monogenic diabetes are recognized in the pediatric population. They include maturity onset diabetes of the young, permanent neonatal diabetes mellitus and rare syndromic forms of diabetes. ...
All subtypes of monogenic diabetes are recognized in the pediatric population. They include maturity onset diabetes of the young, permane …
Insulin therapy in neonatal diabetes mellitus: a review of the literature.
Rabbone I, Barbetti F, Gentilella R, Mossetto G, Bonfanti R, Maffeis C, Iafusco D, Piccinno E. Rabbone I, et al. Diabetes Res Clin Pract. 2017 Jul;129:126-135. doi: 10.1016/j.diabres.2017.04.007. Epub 2017 Apr 13. Diabetes Res Clin Pract. 2017. PMID: 28527303 Review.
Monogenic Forms of Diabetes Mellitus.
Gaál Z, Balogh I. Gaál Z, et al. Exp Suppl. 2019;111:385-416. doi: 10.1007/978-3-030-25905-1_18. Exp Suppl. 2019. PMID: 31588541 Review.
The hyperglycemia usually requires insulin. There are two forms, permanent neonatal diabetes mellitus (PNDM) and transient neonatal diabetes mellitus (TNDM). ...
The hyperglycemia usually requires insulin. There are two forms, permanent neonatal diabetes mellitus (PNDM) and …
Neonatal and late-onset diabetes mellitus caused by failure of pancreatic development: report of 4 more cases and a review of the literature.
Chen R, Hussain K, Al-Ali M, Dattani MT, Hindmarsh P, Jones PM, Marsh P. Chen R, et al. Pediatrics. 2008 Jun;121(6):e1541-7. doi: 10.1542/peds.2007-3543. Pediatrics. 2008. PMID: 18519458 Review.
OBJECTIVE: Permanent neonatal diabetes mellitus caused by developmental failure of the pancreas is rare. ...We now report the clinical and genetic aspects of 4 more cases of permanent neonatal diabetes mellitus caused by pan …
OBJECTIVE: Permanent neonatal diabetes mellitus caused by developmental failure of the pancreas is rare. ...We n …
Neonatal diabetes.
Tammaro P. Tammaro P. Endocr Dev. 2007;11:70-82. doi: 10.1159/000111059. Endocr Dev. 2007. PMID: 17986828 Review.
This review discusses recent advances in our understanding of the role of KATP channels in permanent neonatal diabetes mellitus....
This review discusses recent advances in our understanding of the role of KATP channels in permanent neonatal diabetes …
Neonatal diabetes.
Shield JP. Shield JP. Horm Res. 2007;68 Suppl 5:32-6. doi: 10.1159/000110471. Epub 2007 Dec 10. Horm Res. 2007. PMID: 18174703 Review.
This review will focus on the three conditions about which our understanding of the pathology - and in some cases the treatment options - has greatly increased: transient neonatal diabetes mellitus, permanent neonatal diabetes due to 'channelopathies' …
This review will focus on the three conditions about which our understanding of the pathology - and in some cases the treatment options - ha …
39 results