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Current Opinion in Endocrinology, Diabetes and Obesity, ISSN 1752-296X, 02/2010, Volume 17, Issue 1, pp. 13 - 19
Journal Article
Indian Pediatrics, ISSN 0019-6061, 1/2017, Volume 54, Issue 1, pp. 33 - 36
Neonatal diabetes mellitusis a rare disorder with an incidence of 1 in 2,60,000 live births.Retrospective analysis of clinical and genetic profile of children... 
Pediatrics | Medicine & Public Health | Permanent | Diabetes mellitus | Maternal and Child Health | Genetics | Transient | Pediatric Surgery | KIR6.2 | KCNJ11 | GENE | PEDIATRICS | MELLITUS | ACTIVATING MUTATIONS | CHILDREN | Infants (Newborn) | Urea | Diabetes | Gene mutations | Analysis | Genes
Journal Article
American Journal of Physiology - Endocrinology and Metabolism, ISSN 0193-1849, 12/2018, Volume 315, Issue 6, pp. E1121 - E1132
Gain-of-function (GOF) mutations in the ATP-sensitive potassium (KATP) channels cause neonatal diabetes. Despite the well-established genetic root of the... 
Treatment | Permanent | Sulfonylurea | Remission | Inflammation | Mice | Diabetes | K | Transient | Glibenclamide | Insulin | KATP | sulfonylurea | treatment | insulin | inflammation | transient | permanent | remission | diabetes | glibenclamide | mice
Journal Article
Journal Article
BMC Pediatrics, ISSN 1471-2431, 07/2014, Volume 14, Issue 1, pp. 188 - 188
Background: Permanent neonatal diabetes mellitus (PNDM) is a rare disease, which is defined as the onset of diabetes before the age of 6 months with... 
Permanent neonatal diabetes mellitus | Therapy | Genetic analysis | INSULIN | SULFONYLUREA | KCNJ11 | INFANTS | PEDIATRICS | MUTATIONS | Genetic Testing | Diabetes Mellitus - genetics | China | Humans | Child, Preschool | Female | Infant | Male | Diabetes Mellitus - diagnosis | Genetic Markers | Mutation | Infant, Newborn | Patient compliance | Insulin | Analysis
Journal Article
The Journal of Maternal-Fetal & Neonatal Medicine, ISSN 1476-7058, 05/2017, Volume 30, Issue 9, pp. 1035 - 1040
Objectives: Permanent neonatal diabetes (PNDM) is caused by mutations in the genes responsible for the synthesis of different proteins that are important for... 
mutations | insulin (INS) gene | permanent neonatal diabetes (PND) | DNA sequencing | KIR6.2 | DIAGNOSIS | POLYMORPHISMS | MELLITUS | INDIA | OBSTETRICS & GYNECOLOGY | Diabetes Mellitus - genetics | Humans | Exons - genetics | Infant | Male | Case-Control Studies | Genetic Variation | DNA Mutational Analysis | Female | Infant, Newborn, Diseases - genetics | Mutation | Insulin - genetics | Infant, Newborn
Journal Article
Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 09/2014, Volume 27, Issue 9, pp. 879 - 883
Journal Article
Pediatric Diabetes, ISSN 1399-543X, 11/2017, Volume 18, Issue 7, pp. 518 - 523
Objectives Mutations in KCNJ11 are the most common cause of permanent neonatal diabetes mellitus (NDM). Approximately 25% of patients have obvious neurological... 
developmental disabilities | diabetes mellitus | genetics | attention deficit disorder with hyperactivity | permanent neonatal | DIAGNOSIS | CHILDREN | SULFONYLUREAS | MUTATION | ENDOCRINOLOGY & METABOLISM | K-ATP CHANNEL | PEDIATRICS | PATIENT | COHORT | DYSFUNCTION | Prevalence | Diabetes Mellitus - genetics | Humans | Parents | Child, Preschool | Male | Risk | Learning Disorders - etiology | Sleep Wake Disorders - genetics | Sleep Wake Disorders - epidemiology | Female | Registries | Chicago - epidemiology | Learning Disorders - epidemiology | Child | Sleep Wake Disorders - etiology | Siblings | Genetic Predisposition to Disease | Self Report | Hospitals, University | Potassium Channels, Inwardly Rectifying - genetics | Legal Guardians | Attention Deficit Disorder with Hyperactivity - genetics | Diabetes Mellitus - physiopathology | Adolescent | Attention Deficit Disorder with Hyperactivity - etiology | Learning Disorders - genetics | Mutation | Amino Acid Substitution | Attention Deficit Disorder with Hyperactivity - epidemiology | Cohort Studies | Infants (Newborn) | Sleep disorders | Academic achievement | Analysis | Attention-deficit hyperactivity disorder | Learning disabilities | Diabetes | Attention deficit disorder | Neonates | Parental behavior | Emotional behavior | Psychology | Attention deficit hyperactivity disorder | Diabetes mellitus | Data processing | Neurodevelopmental disorders | Measuring techniques | Learning | Sleep | Social behavior | Social discrimination learning | Neurological complications | Developmental Disabilities | Genetics | Diabetes Mellitus | Attention Deficit Disorder with Hyperactivity | Permanent Neonatal
Journal Article