Cargando…
Permanent neonatal diabetes due to a novel insulin signal peptide mutation
We report a rare case of permanent neonatal diabetes (PND) due to insulin (INS) gene mutation in a 51-month-old girl who presented with hyperglycemia in the neonatal period. Mutational analysis of KCNJ11 and INS was performed and this detected a novel heterozygous c.38T>G (p.Leu13Arg) INS de novo...
Autores principales: | Hussain, Suhaimi, Mohd Ali, Johari, Jalaludin, Muhammad Yazid, Harun, Fatimah |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons A/S
2013
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3712474/ https://www.ncbi.nlm.nih.gov/pubmed/23350652 http://dx.doi.org/10.1111/pedi.12011 |
Ejemplares similares
-
Permanent neonatal diabetes due to a heterozygous INS mutation
por: Long, Kha Chin, et al.
Publicado: (2015) -
Vitamin D status of healthy adolescents from two states in Malaysia
por: Hussain, Suhaimi, et al.
Publicado: (2015) -
Misdiagnosis of type 1 diabetes mellitus
por: Nor, Noor Shafina Mohd, et al.
Publicado: (2013) -
Type 2 diabetes mellitus in children: are we ‘treating’ them right?
por: Azriyanti, Anuar, et al.
Publicado: (2015) -
A Novel, Homozygous c.1502T>G (p.Val501Gly) Mutation in the Thyroid peroxidase Gene in Malaysian Sisters with Congenital Hypothyroidism and Multinodular Goiter
por: Lee, Ching Chin, et al.
Publicado: (2013)