Neonatal diabetes caused by the heterozygous Pro1198Leu mutation in the ABCC8 gene in a male infant: 6‐year clinical course

Neonatal diabetes is a rare disease, often caused by a monogenic abnormality. A male infant patient developed diabetic ketoacidosis at 2 months‐of‐age due to the heterozygous ABCC8 gene mutation (p.Pro1198Leu). After genetic diagnosis, insulin therapy was successfully transitioned to oral sulfonylur...

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Veröffentlicht in:J Diabetes Investig
Hauptverfasser: Uraki, Shinsuke, Furuta, Hiroto, Miyawaki, Masakazu, Matsutani, Norihiko, Shima, Yuko, Iwamoto, Miki, Matsuno, Shohei, Morita, Shuhei, Furuta, Machi, Doi, Asako, Iwakura, Hiroshi, Ariyasu, Hiroyuki, Nishi, Masahiro, Suzuki, Hiroyuki, Akamizu, Takashi
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2019
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7078085/
https://ncbi.nlm.nih.gov/pubmed/31390154
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/jdi.13127
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