Cargando…
A case of transient neonatal diabetes due to a novel mutation in ABCC8
Autores principales: | Takagi, Masaki, Takeda, Ryojun, Yagi, Hiroko, Ariyasu, Daisuke, Fukuzawa, Ryuji, Hasegawa, Tomonobu |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Japanese Society for Pediatric Endocrinology
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5069543/ https://www.ncbi.nlm.nih.gov/pubmed/27780984 http://dx.doi.org/10.1297/cpe.25.139 |
Ejemplares similares
-
A case of a Japanese patient with neonatal diabetes mellitus caused by a
novel mutation in the ABCC8 gene and successfully controlled with oral
glibenclamide
por: Takeda, Ryojun, et al.
Publicado: (2015) -
A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic
deletion of TRAPPC2
por: Takagi, Masaki, et al.
Publicado: (2015) -
A familial case of spondyloepiphyseal dysplasia tarda caused by a novel
splice site mutation in TRAPPC2
por: Fukuma, Mami, et al.
Publicado: (2018) -
A Japanese boy with fructose-1,6-bisphosphatase deficiency who had a novel
FBP1 mutation (p.Phe90Val)
por: Nagahara, Keiko, et al.
Publicado: (2017) -
Central precocious puberty in a boy with pseudohypoparathyroidism type Ia due
to a novel GNAS mutation
por: Kagami, Ryosuke, et al.
Publicado: (2020)