Cargando…

Diazoxide-unresponsive congenital hyperinsulinism associated with ABCC8 nonsense mutation

Detalles Bibliográficos
Autores principales:	Hussain, Suhaimi, Ellard, Sian, Flanagan, Sarah
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2015
Materias:	Poster Presentation
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4429108/ http://dx.doi.org/10.1186/1687-9856-2015-S1-P86

Ejemplares similares

A novel mutation of ABCC8 gene in a patient with diazoxide-unresponsive congenital hyperinsulinism
por: Park, Ji Sook, et al.
Publicado: (2016)

Partial diazoxide responsiveness in a neonate with hyperinsulinism due to homozygous ABCC8 mutation
por: Kiff, Sarah, et al.
Publicado: (2019)

Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11
por: Hewat, Thomas I., et al.
Publicado: (2021)

Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism
por: Chandran, Suresh, et al.
Publicado: (2013)

Novel Compound Heterozygous Variants of the ABCC8 Gene Warrant Identification of Pancreatic Histology in Infant with Diazoxide-unresponsive Congenital Hyperinsulinism
por: Al Balwi, Rana, et al.
Publicado: (2021)

Congenital hyperinsulinism: clinical and molecular characterisation of compound heterozygous ABCC8 mutation responsive to Diazoxide therapy
por: Arya, Ved Bhushan, et al.
Publicado: (2014)

Efficacy and safety of octreotide treatment for diazoxide‐unresponsive congenital hyperinsulinism in China
por: Cao, Bingyan, et al.
Publicado: (2020)

Genotype-phenotype correlation in Taiwanese children with diazoxide-unresponsive congenital hyperinsulinism
por: Lee, Cheng-Ting, et al.
Publicado: (2023)

Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation
por: Işık, Emregül, et al.
Publicado: (2019)

Short term outcome of congenital hyperinsulinism: case series
por: Lim, Song Hai, et al.
Publicado: (2013)

Diazoxide-Unresponsive Congenital Hyperinsulinism in Children With Dominant Mutations of the β-Cell Sulfonylurea Receptor SUR1
por: MacMullen, Courtney M., et al.
Publicado: (2011)

Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia
por: Flanagan, SE, et al.
Publicado: (2011)

Molecular genetics and phenotype of 26 Vietnamese patients with congenital hyperinsulinism
por: Dung, Vu Chi, et al.
Publicado: (2013)

Molecular genetics, correlation between genotype and phenotype of 65 Vietnames patients with congenital hyperinsulinism
por: Duong, Dang Anh, et al.
Publicado: (2015)

An ABCC8 Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression
por: Flanagan, Sarah E., et al.
Publicado: (2017)

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism
por: Kapoor, Ritika R, et al.
Publicado: (2013)

Pasireotide treatment for severe congenital hyperinsulinism due to a homozygous ABCC8 mutation
por: Mooij, Christiaan F., et al.
Publicado: (2021)

Congenital hyperinsulinism in two siblings with ABCC8 mutation: same genotype, different phenotypes
por: Sousa-Santos, Francisco, et al.
Publicado: (2018)

SUN-690 HNF4A Mutation in Siblings with Diazoxide Responsive Congenital Hyperinsulinism
por: Erkin-Cakmak, Ayca, et al.
Publicado: (2020)

Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8
por: Mouron-Hryciuk, Julie, et al.
Publicado: (2021)

Neonatal hyperinsulinism with an ABCC8 mutation: A case report
por: Liu, Meng-Tong, et al.
Publicado: (2023)

Familial Focal Congenital Hyperinsulinism
por: Ismail, Dunia, et al.
Publicado: (2011)

Genotyping of ABCC8, KCNJ11, and HADH in Iranian Infants with Congenital Hyperinsulinism
por: Hashemian, Somayyeh, et al.
Publicado: (2021)

Sirolimus treatment of severe congenital hyperinsulinism
por: Amato, Lisa A, et al.
Publicado: (2015)

Relative Expression of a Dominant Mutated ABCC8 Allele Determines the Clinical Manifestation of Congenital Hyperinsulinism
por: Shemer, Ruth, et al.
Publicado: (2012)

Congenital Hyperinsulinism Caused by a De Novo Mutation in the ABCC8 Gene - A Case Report
por: Molnár, Zsuzsanna, et al.
Publicado: (2017)

Update of variants identified in the pancreatic β‐cell K(ATP) channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes
por: De Franco, Elisa, et al.
Publicado: (2020)

Clinical and Genetic Characteristics, Management and Long-Term Follow-Up of Turkish Patients with Congenital Hyperinsulinism
por: Güven, Ayla, et al.
Publicado: (2016)

Diazoxide-Induced Hypertrichosis in a Neonate With Transient Hyperinsulinism
por: Boskabadi, Seyyed Javad, et al.
Publicado: (2023)

Pancreatic Endocrine and Exocrine Function in Children following Near-Total Pancreatectomy for Diffuse Congenital Hyperinsulinism
por: Arya, Ved Bhushan, et al.
Publicado: (2014)

Coexistence of Mosaic Uniparental Isodisomy and a KCNJ11 Mutation Presenting as Diffuse Congenital Hyperinsulinism and Hemihypertrophy
por: Kocaay, Pınar, et al.
Publicado: (2016)

A Novel Homozygous Mutation in the KCNJ11 Gene of a Neonate with Congenital Hyperinsulinism and Successful Management with Sirolimus
por: Ünal, Sevim, et al.
Publicado: (2016)

Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism
por: Wieland, Ilse, et al.
Publicado: (2022)

Neonatal Diabetes and Congenital Hyperinsulinism Caused by Mutations in ABCC8/SUR1 are Associated with Altered and Opposite Affinities for ATP and ADP
por: Ortiz, David, et al.
Publicado: (2015)

First Report of Diabetes Phenotype due to a Loss-of-Function ABCC8 Mutation Previously Known to Cause Congenital Hyperinsulinism
por: Koufakis, Theocharis, et al.
Publicado: (2019)

MON-073 Hyperinsulinemic Hypoglycemia Responsive to Diazoxide Due to a Previously Unknown ABCC8 Dominant Mutation
por: Figueredo, Veronica M, et al.
Publicado: (2020)

Successful treatment of a newborn with congenital hyperinsulinism having a novel heterozygous mutation in the ABCC8 gene using subtotal pancreatectomy
por: Yen, Chi-Feng, et al.
Publicado: (2016)

SUN-270 Heterozygous Mutation in ABCC8 in a Pedigree with Congenital Hyperinsulinism, Multiple Macrosomic Stillbirths, and Adult-Onset Diabetes Mellitus
por: Ludwig, Karissa, et al.
Publicado: (2019)

Nifedipine in Congenital Hyperinsulinism- A Case Report
por: Khawash, Papiya, et al.
Publicado: (2015)

Modeling Congenital Hyperinsulinism with ABCC8-Deficient Human Embryonic Stem Cells Generated by CRISPR/Cas9
por: Guo, Dongsheng, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_lvpaaqs0sr0ed3rkl73146sk2c