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Diagnosis and treatment of neonatal diabetes: a United States experience

Diagnosis and treatment of neonatal diabetes: a United States experience

http://www.wikidata.org/entity/Q36953066

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Outpatient Management of Pediatric Type 1 Diabetes Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment Genetics and pathophysiology of neonatal diabetes mellitus.Guidelines and recommendations for laboratory analysis in the diagnosis and management of diabetes mellitus.Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.Mutant INS-gene induced diabetes of youth: proinsulin cysteine residues impose dominant-negative inhibition on wild-type proinsulin transport Permanent neonatal diabetes mellitus: prevalence and genetic diagnosis in the SEARCH for Diabetes in Youth Study Neonatal diabetes mellitus: a model for personalized medicine The molecular mechanisms and pharmacotherapy of ATP-sensitive potassium channel gene mutations underlying neonatal diabetes The cost-effectiveness of personalized genetic medicine: the case of genetic testing in neonatal diabetes.Sulfonylurea treatment before genetic testing in neonatal diabetes: pros and cons Permanent diabetes during the first year of life: multiple gene screening in 54 patients Transient neonatal diabetes due to a missense mutation (E227K) in the gene encoding the ATP-sensitive potassium channel (KCNJ11).Age at the time of sulfonylurea initiation influences treatment outcomes in KCNJ11-related neonatal diabetes Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach Tooth discoloration in patients with neonatal diabetes after transfer onto glibenclamide: a previously unreported side effect.Diabetes mellitus in neonates and infants: genetic heterogeneity, clinical approach to diagnosis, and therapeutic options.Technologies for diabetes genomics.Current understanding of K ATP channels in neonatal diseases: focus on insulin secretion disorders.The role of pancreatic imaging in monogenic diabetes mellitus.Neonatal diabetes mellitus in China: a case report and review of the Chinese literature.ADHD, learning difficulties and sleep disturbances associated with KCNJ11-related neonatal diabetes.Patients with KCNJ11-related diabetes frequently have neuropsychological impairments compared with sibling controls Demographic and clinical characteristics of patients with type 1 diabetes mellitus: A multicenter registry study in Guangdong, China.A Novel Approach to the Management of Neonatal Diabetes Using Sensor-Augmented Insulin Pump Therapy With Threshold Suspend Technology at Diagnosis.Prematurity and Genetic Testing for Neonatal Diabetes.Changing the Treatment of Permanent Neonatal Diabetes Mellitus from Insulin to Glibenclamide in a 4-Month-Old Infant with KCNJ11 Activating Mutation.KATP Channel Mutations and Neonatal Diabetes.Clinical utility gene card for: Transient Neonatal Diabetes Mellitus, 6q24-related Infantile onset diabetes mellitus.Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia.Clinical profile and outcome of infantile onset diabetes mellitus in southern India.Short stature in child with early-onset diabetes.Identification of insulin gene variants in neonatal diabetes.Genetic characteristics, clinical spectrum, and incidence of neonatal diabetes in the Emirate of AbuDhabi, United Arab Emirates.Monogenic Causes of Diabetes

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P2860

Diagnosis and treatment of neonatal diabetes: a United States experience

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2008 nî lūn-bûn

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2008年の論文

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2008年論文

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2008年論文

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2008年論文

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2008年论文

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2008年论文

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2008年论文

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Diagnosis and treatment of neonatal diabetes: a United States experience

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Diagnosis and treatment of neonatal diabetes: a United States experience

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Diagnosis and treatment of neonatal diabetes: a United States experience

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J.1399-5448.2008.00433.X

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Pediatric Diabetes

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Diagnosis and treatment of neonatal diabetes: a United States experience

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Ashley N Pastore

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Fran R Cogen

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Graeme I Bell

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Honggang Ye

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Julie Støy

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Kinga B Skowron

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Louis H Philipson

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Rebecca B Lipton

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Siri Atma W Greeley

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United States Neonatal Diabetes Working Group

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P2860

The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy.

Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.

Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes.

EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome

Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism

Insulin gene mutations as a cause of permanent neonatal diabetes.

Monogenic diabetes in children and young adults: Challenges for researcher, clinician and patient.

Prevalence and HLA association of GAD65 antibodies in Hungarian schoolchildren.

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23132983

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Ameeriga Ütisriigiq

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