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Phenotype variability and neonatal diabetes in a large family with heterozygous mutation of the glucokinase gene

Monogenic diabetes caused by mutations in the glucokinase gene (GCK-MODY) is usually characterized by a mild clinical phenotype. The clinical course of diabetes may be, however, highly variable. The authors present a child with diabetes manifesting with ketoacidosis during the neonatal period, born...

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書誌詳細
主要な著者: Borowiec, Maciej, Mysliwiec, Malgorzata, Fendler, Wojciech, Antosik, Karolina, Brandt, Agnieszka, Malecki, Maciej, Mlynarski, Wojciech
フォーマット: Artigo
言語:Inglês
出版事項: Springer Milan 2011
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3162147/
https://ncbi.nlm.nih.gov/pubmed/21437567
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00592-011-0279-8
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