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Journal article

Monogenic β-cell dysfunction in children: Clinical phenotypes, genetic etiology and mutational pathways

Abstract:

Monogenic diabetes accounts for 1-2% of all cases of diabetes mellitus and presentation is often in childhood. Recognizing the clinical features of monogenic β-cell dysfunction prevents misdiagnosis and allows for more effective management and genetic counseling. Monogenic β-cell dysfunction is a diverse collection of clinical phenotypes underpinned by common mutational pathways. Mutations affecting the glycolytic glucokinase enzyme, the mitochondria, the KATP channels and transcription facto...

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Publisher copy:
10.2217/17455111.2.4.517

Authors


Journal:
Pediatric Health
Volume:
2
Issue:
4
Pages:
517-532
Publication date:
2008-08-05
DOI:
EISSN:
1745-512X
ISSN:
1745-5111
URN:
uuid:80f5e574-0661-4890-9924-a0097e0dbadf
Source identifiers:
94110
Local pid:
pubs:94110

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