Concepedia

ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents

Andrew T. Hattersley, Siri Atma W. Greeley, Michel Polak, Oscar Rubio‐Cabezas, Pål R. Njølstad, Wojciech Młynarski, Luís Castaño, Annelie Carlsson, Klemens Raile, Sian Ellard,

Pediatric Diabetes · 2018 · 317 citations · 179 references

DOI

Concepts

Abstract

M.P. has acted as scientific advisor for the development of the glibenclamide-glyburide suspension named AMGLIDIA in the European Union. The other authors have declared no conflicts of interest.

References

179

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

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The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

Craig L. Bennett, Jacinda R. Christie, Fred Ramsdell et al. · Nature Genetics · 2001 · 3.4K citations

, , +13

A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies

Yu‐ichi Goto, Ikuya Nonaka, Satoshi Horai · Nature · 1990 · 2.1K citations

, , +11

Mutations in the hepatocyte nuclear factor-1α gene in maturity-onset diabetes of the young (MODY3)

Kazuya Yamagata, Naohisa Oda, Pamela J. Kaisaki et al. · Nature · 1996 · 1.6K citations · Full text

, , +7

Activating Mutations in the Gene Encoding the ATP-Sensitive Potassium-Channel Subunit Kir6.2 and Permanent Neonatal Diabetes

Anna L. Gloyn, Ewan R. Pearson, Jennifer F. Antcliff et al. · New England Journal of Medicine · 2004 · 1.1K citations

, , +17