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complete glucokinase deficiency (13) 13
humans (13) 13
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EUROPEAN JOURNAL OF ENDOCRINOLOGY, ISSN 0804-4643, 06/2015, Volume 172, Issue 6, pp. 697 - 705
Background: Neonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes and usually presents in the first 6 months of life. We aimed to describe the... 
INSULIN | KIR6.2 | HETEROGENEITY | COMPLETE GLUCOKINASE DEFICIENCY | INS GENE | ENDOCRINOLOGY & METABOLISM | RECESSIVE MUTATIONS | WOLCOTT-RALLISON-SYNDROME | MELLITUS | PREVALENCE | COMMON-CAUSE
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 04/2004, Volume 350, Issue 18, pp. 1838 - 1849
Journal Article
The Journal of Pediatrics, ISSN 0022-3476, 2005, Volume 146, Issue 1, pp. 131 - 133
We describe a novel homozygous missense glucokinase mutation (R397L) resulting in insulin-treated neonatal diabetes in an infant from a consanguineous Asian... 
PEDIATRICS | MUTATIONS | GENE | COMPLETE GLUCOKINASE DEFICIENCY | COMMON-CAUSE | Homozygote | Asian Continental Ancestry Group | Pakistan - ethnology | Pedigree | Humans | Diabetes Mellitus, Type 1 - genetics | Female | Glucokinase - genetics | Consanguinity | Infant, Newborn | Mutation, Missense - genetics
Journal Article
Journal Article
Best Practice & Research: Clinical Endocrinology & Metabolism, ISSN 1521-690X, 2007, Volume 22, Issue 1, pp. 17 - 40
Journal Article
DIABETOLOGIE UND STOFFWECHSEL, ISSN 1861-9002, 06/2010, Volume 5, Issue 3, pp. 176 - 183
The term "Maturity-Onset Diabetes of the Young" (MODY) summarizes different syndromes of early onset type-2-diabetes with autosomal dominant inherited... 
TRANSCRIPTION FACTORS | beta-cell dysfunction | MELLITUS | monogenetic diabetes | HETEROGENEITY | MODY | HYPERGLYCEMIA | COMPLETE GLUCOKINASE DEFICIENCY | ENDOCRINOLOGY & METABOLISM | HYPOGLYCEMIA | diabetes | EXPRESSION | NUCLEAR FACTOR-1-BETA GENE | ACTIVATING MUTATIONS | COMMON-CAUSE
Journal Article