Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants (Q37807453)

23 August 2017

Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants (English)

1 reference

23 August 2017

2

Tomasz Klupa

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23 August 2017

3

Maciej T Malecki

1 reference

23 August 2017

4

CEED3 Consortium

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23 August 2017

Oscar Rubio-Cabezas

1

1 reference

23 August 2017

4 November 2010

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European Journal of Clinical Investigation

23 August 2017

1 reference

23 August 2017

41

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23 August 2017

3

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23 August 2017

323-333

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Temporal, seasonal, and geographical incidence patterns of type I diabetes mellitus in children under 5 years of age in Germany

23 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Type 1 diabetes: pathogenesis and prevention

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Acquired non-type 1 diabetes in childhood: subtypes, diagnosis, and management.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Natural history of type 1 diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

The diagnosis and management of monogenic diabetes in children and adolescents

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Genetics of type 1A diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Islet cell antibodies predict insulin-dependent diabetes in United States school age children as powerfully as in unaffected relatives

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

The cation efflux transporter ZnT8 (Slc30A8) is a major autoantigen in human type 1 diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Brief communication: early appearance of islet autoantibodies predicts childhood type 1 diabetes in offspring of diabetic parents

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Hormonal regulation of fetal growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Long-term course of neonatal diabetes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Neonatal diabetes: new insights into aetiology and implications

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Neonatal diabetes mellitus: a disease linked to multiple mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Roles of ATP-sensitive K+ channels in cell survival and differentiation in the endocrine pancreas

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Relapsing diabetes can result from moderately activating mutations in KCNJ11.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Sulfonylrea treatment in permanent neonatal diabetes due to G53D mutation in the KCNJ11 gene: improvement in glycemic control and neurological function

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Muscle dysfunction caused by a KATP channel mutation in neonatal diabetes is neuronal in origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Cloning and functional expression of the cDNA encoding a novel ATP-sensitive potassium channel subunit expressed in pancreatic beta-cells, brain, heart and skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Functional effects of mutations at F35 in the NH2-terminus of Kir6.2 (KCNJ11), causing neonatal diabetes, and response to sulfonylurea therapy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Tooth discoloration in patients with neonatal diabetes after transfer onto glibenclamide: a previously unreported side effect

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

The identification of a R201H mutation in KCNJ11, which encodes Kir6.2, and successful transfer to sustained-release sulphonylurea therapy in a subject with neonatal diabetes: evidence for heterogeneity of beta cell function among carriers of the R2

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Efficacy and safety of sulfonylurea use in permanent neonatal diabetes due to KCNJ11 gene mutations: 34-month median follow-up

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

The first case report of sulfonylurea use in a woman with permanent neonatal diabetes mellitus due to KCNJ11 mutation during a high-risk pregnancy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

New ABCC8 mutations in relapsing neonatal diabetes and clinical features

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Mutations in the ABCC8 (SUR1 subunit of the K(ATP) channel) gene are associated with a variable clinical phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Mechanism of action of a sulphonylurea receptor SUR1 mutation (F132L) that causes DEND syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Insulin gene mutations as a cause of permanent neonatal diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Dominant negative pathogenesis by mutant proinsulin in the Akita diabetic mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Banting Lecture 1995. A lesson in metabolic regulation inspired by the glucokinase glucose sensor paradigm

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Neonatal diabetes mellitus due to complete glucokinase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Mutations in PTF1A cause pancreatic and cerebellar agenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Rfx6 directs islet formation and insulin production in mice and humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Identification of a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Neonatal diabetes mellitus: chromosomal analysis in transient and permanent cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Molecular diagnostics in monogenic and multifactorial forms of type 2 diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Transcription factor Glis3, a novel critical player in the regulation of pancreatic beta-cell development and insulin gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Molecular genetics goes to the diabetes clinic.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Medical and developmental impact of transition from subcutaneous insulin to oral glyburide in a 15-yr-old boy with neonatal diabetes mellitus and intermediate DEND syndrome: extending the age of KCNJ11 mutation testing in neonatal DM.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Sulphonylurea therapy improves cognition in a patient with the V59M KCNJ11 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation i

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02409.X

10.1111/J.1365-2362.2010.02409.X

21 January 2018

Identifiers

DOI

1 reference

23 August 2017

1 reference

PubMed ID

21054355