Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees
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The Diagnosis and Management of Hyperinsulinaemic HypoglycaemiaIdentification of gene signatures used to recognize biological characteristics of gastric cancer upon gene expression data.Congenital hyperinsulinism: current status and future perspectives.Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia.A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course.Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase.Genotype and phenotype correlations in 417 children with congenital hyperinsulinismThe effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.The molecular mechanisms, diagnosis and management of congenital hyperinsulinismAnalysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management.Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia.Hyperinsulinaemic hypoglycaemia:genetic mechanisms, diagnosis and management.Integrating genetic and imaging investigations into the clinical management of congenital hyperinsulinism.Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients.Clinical and Genetic Characteristics, Management and Long-Term Follow-Up of Turkish Patients with Congenital Hyperinsulinism.A Case Series: Congenital Hyperinsulinism3-hydroxyacyl-coenzyme a dehydrogenase deficiency: identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrations.Congenital Hyperinsulinism: Diagnosis and Treatment Update.Protein-induced hyperinsulinaemic hypoglycaemia due to a homozygous HADH mutation in three siblings of a Saudi family.Congenital hyperinsulinism: global and Japanese perspectives.Hyperinsulinism-hyperammonemia syndrome in an infant with seizures
P2860
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P2860
Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees
description
2011 nî lūn-bûn
@nan
2011 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Genome-wide homozygosity analy ...... ia in consanguineous pedigrees
@ast
Genome-wide homozygosity analy ...... ia in consanguineous pedigrees
@en
type
label
Genome-wide homozygosity analy ...... ia in consanguineous pedigrees
@ast
Genome-wide homozygosity analy ...... ia in consanguineous pedigrees
@en
prefLabel
Genome-wide homozygosity analy ...... ia in consanguineous pedigrees
@ast
Genome-wide homozygosity analy ...... ia in consanguineous pedigrees
@en
P2093
P2860
P50
P356
P1476
Genome-wide homozygosity analy ...... ia in consanguineous pedigrees
@en
P2093
Enver Simsek
Jonathan M Locke
Khalid Hussain
Meena Desai
Mohammadreza Alaei
Ritika R Kapoor
Teoman Akcay
Zeinab Yekta
P2860
P304
P356
10.1210/JC.2010-1906
P407
P577
2011-01-20T00:00:00Z