المؤلفون: Gole E; University of Athens, 2nd Department of Pediatrics, “P&A Kyriakou” Children’s Hospital, Diabetes and Metabolism Unit, Athens, Greece, Oikonomou S; University of Athens, 2nd Department of Pediatrics, “P&A Kyriakou” Children’s Hospital, Diabetes and Metabolism Unit, Athens, Greece, Ellard S; University of Exeter Medical School, Institute of Biomedical and Clinical Science, Exeter, United Kingdom, De Franco E; University of Exeter Medical School, Institute of Biomedical and Clinical Science, Exeter, United Kingdom, Karavanaki K; University of Athens, 2nd Department of Pediatrics, “P&A Kyriakou” Children’s Hospital, Diabetes and Metabolism Unit, Athens, Greece

المصدر: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2018 Jun 01; Vol. 10 (2), pp. 175-178. Date of Electronic Publication: 2017 Sep 25.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Galenos Yayınevi Country of Publication: Turkey NLM ID: 101519456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1308-5735 (Electronic) NLM ISO Abbreviation: J Clin Res Pediatr Endocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Diabetes Mellitus/*diagnosis , Infant, Newborn, Diseases/*diagnosis , Potassium Channels, Inwardly Rectifying/*genetics, Diabetes Mellitus/blood ; Diabetes Mellitus/diet therapy ; Female ; Humans ; Infant ; Infant, Newborn ; Infant, Newborn, Diseases/blood ; Infant, Newborn, Diseases/genetics ; Mutation, Missense

المؤلفون: Evliyaoğlu O; İstanbul University Cerrahpaşa Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey, Ercan O; İstanbul University Cerrahpaşa Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey, Ataoğlu E; University of Health Science, Haseki Training and Research Hospital, Newborn Intensive Unit, İstanbul, Turkey, Zübarioğlu Ü; Şişli Hamidiye Etfal Training and Research Hospital, Newborn Intensive Unit, İstanbul, Turkey, Özcabı B; İstanbul University Cerrahpaşa Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey, Dağdeviren A; İstanbul University Cerrahpaşa Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey, Erdoğan H; İstanbul University Cerrahpaşa Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey, De Franco E; University of Exeter Medical School, Institute of Biomedical and Clinical Science, Exeter, United Kingdom, Ellard S; University of Exeter Medical School, Institute of Biomedical and Clinical Science, Exeter, United Kingdom

المصدر: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2018 Jun 01; Vol. 10 (2), pp. 168-174. Date of Electronic Publication: 2017 Sep 25.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Galenos Yayınevi Country of Publication: Turkey NLM ID: 101519456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1308-5735 (Electronic) NLM ISO Abbreviation: J Clin Res Pediatr Endocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Diabetes Mellitus*/blood , Diabetes Mellitus*/diagnosis , Diabetes Mellitus*/genetics , Epilepsy*/blood , Epilepsy*/diagnosis , Epilepsy*/genetics , Infant, Newborn, Diseases*/blood , Infant, Newborn, Diseases*/diagnosis , Infant, Newborn, Diseases*/genetics , Pancreatic Diseases*/blood , Pancreatic Diseases*/diagnosis , Pancreatic Diseases*/genetics , Psychomotor Disorders*/blood , Psychomotor Disorders*/diagnosis , Psychomotor Disorders*/genetics, Pancreas/*abnormalities , Potassium Channels, Inwardly Rectifying/*genetics , Transcription Factors/*genetics, Child, Preschool ; Consanguinity ; Female ; Humans ; Infant ; Male

SCR Disease Name: Developmental Delay, Epilepsy, and Neonatal Diabetes

المؤلفون: Dahl AR; Mayo Clinic, Department of Pediatric and Adolescent Medicine, Rochester, Minnesota, USA., Dhamija R; Mayo Clinic, Department of Clinical Genomics, Phoenix, Arizona, USA., Al Nofal A; University of South Dakota, Sanford Children Specialty Clinic, Division of Pediatric Endocrinology, Sioux Falls, South Dakota, USA., Pittock ST; Mayo Clinic, Department of Pediatric and Adolescent Medicine, Division of Pediatric Endocrinology, Rochester, Minnesota, USA., Schwenk WF; Mayo Clinic, Department of Pediatric and Adolescent Medicine, Division of Pediatric Endocrinology, Rochester, Minnesota, USA., Kumar S; Mayo Clinic, Department of Pediatric and Adolescent Medicine, Division of Pediatric Endocrinology, Rochester, Minnesota, USA.

المصدر: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2018 Mar 01; Vol. 10 (1), pp. 79-82. Date of Electronic Publication: 2017 Aug 02.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Galenos Yayınevi Country of Publication: Turkey NLM ID: 101519456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1308-5735 (Electronic) NLM ISO Abbreviation: J Clin Res Pediatr Endocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Diabetes Mellitus/*diagnosis , Infant, Newborn, Diseases/*diagnosis , Klinefelter Syndrome/*diagnosis , Potassium Channels, Inwardly Rectifying/*genetics, Diabetes Mellitus/diet therapy ; Diabetes Mellitus/drug therapy ; Humans ; Infant ; Infant, Newborn ; Klinefelter Syndrome/genetics ; Male

المؤلفون: Şıklar Z; Ankara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey, Phone: +90 312 595 66 35 E-mail: zeynepsklr@gmail.com., Berberoğlu M

المصدر: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2016 Dec 01; Vol. 8 (4), pp. 375-380. Date of Electronic Publication: 2016 May 16.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Galenos Yayınevi Country of Publication: Turkey NLM ID: 101519456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1308-5735 (Electronic) NLM ISO Abbreviation: J Clin Res Pediatr Endocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Congenital Hyperinsulinism/*genetics , Genetic Predisposition to Disease/*genetics , Hypoglycemia/*genetics, 3-Hydroxyacyl CoA Dehydrogenases/genetics ; Child ; Congenital Hyperinsulinism/complications ; Humans ; Hypoglycemia/complications ; Potassium Channels, Inwardly Rectifying/genetics ; Sulfonylurea Receptors/genetics ; Turkey

المؤلفون: Ünal S; Ankara Children's Hematology-Oncology Training and Research Hospital, Clinic of Neonatology, Ankara, Turkey, Phone: +90 312 596 97 30 E-mail: sevimunal@yahoo.com., Gönülal D, Uçaktürk A, Siyah Bilgin B, Flanagan SE, Gürbüz F, Tayfun M, Elmaoğulları S, Araslı A, Demirel F, Ellard S, Hussain K

المصدر: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2016 Dec 01; Vol. 8 (4), pp. 478-481. Date of Electronic Publication: 2016 May 16.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Galenos Yayınevi Country of Publication: Turkey NLM ID: 101519456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1308-5735 (Electronic) NLM ISO Abbreviation: J Clin Res Pediatr Endocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Congenital Hyperinsulinism/*drug therapy , Genetic Predisposition to Disease/*genetics , Potassium Channels, Inwardly Rectifying/*genetics , Sirolimus/*therapeutic use, Congenital Hyperinsulinism/genetics ; Consanguinity ; Family Health ; Female ; Heterozygote ; Homozygote ; Humans ; Immunosuppressive Agents/therapeutic use ; Infant, Newborn ; Male ; Parents ; Treatment Outcome

المؤلفون: Mohamed Z; University College London, Institue of Child Health, Developmental Endocrinology Research Clinical, Molecular Genetics Unit, London, United Kingdom., Arya VB, Hussain K

المصدر: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2012 Dec; Vol. 4 (4), pp. 169-81. Date of Electronic Publication: 2012 Oct 02.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Galenos Yayınevi Country of Publication: Turkey NLM ID: 101519456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1308-5735 (Electronic) NLM ISO Abbreviation: J Clin Res Pediatr Endocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Hyperinsulinism/*therapy , Hypoglycemia/*therapy, ATP-Binding Cassette Transporters/genetics ; ATP-Binding Cassette Transporters/metabolism ; Animals ; Humans ; Hyperinsulinism/diagnosis ; Hyperinsulinism/etiology ; Hyperinsulinism/genetics ; Hypoglycemia/diagnosis ; Hypoglycemia/etiology ; Hypoglycemia/genetics ; Mutation ; Potassium Channels, Inwardly Rectifying/genetics ; Potassium Channels, Inwardly Rectifying/metabolism ; Receptors, Drug/genetics ; Receptors, Drug/metabolism ; Sulfonylurea Receptors

المؤلفون: Aydin BK; İstanbul University Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey. bkucukemre@yahoo.com, Bundak R, Baş F, Maraş H, Saka N, Günöz H, Darendeliler F

المصدر: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2012 Jun; Vol. 4 (2), pp. 107-10.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Galenos Yayınevi Country of Publication: Turkey NLM ID: 101519456 Publication Model: Print Cited Medium: Internet ISSN: 1308-5735 (Electronic) NLM ISO Abbreviation: J Clin Res Pediatr Endocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Diabetes Mellitus/*drug therapy , Diabetes Mellitus/*genetics , Sulfonylurea Compounds/*therapeutic use, ATP-Binding Cassette Transporters/genetics ; Blood Glucose/metabolism ; Diabetes Mellitus/blood ; Female ; Follow-Up Studies ; Humans ; Infant ; Infant, Newborn ; Male ; Pedigree ; Potassium Channels, Inwardly Rectifying/genetics ; Receptors, Drug/genetics ; Siblings ; Sulfonylurea Receptors ; Treatment Outcome

المؤلفون: Elisa De Franco, Evangelia Gole, Sian Ellard, Stavroula Oikonomou, Kyriaki Karavanaki

المصدر: Journal of Clinical Research in Pediatric Endocrinology

مصطلحات موضوعية: medicine.medical_specialty, Neonatal diabetes, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Mutation, Missense, Case Report, 030209 endocrinology & metabolism, medicine.disease_cause, Infant, Newborn, Diseases, 03 medical and health sciences, transient, 0302 clinical medicine, Endocrinology, Neonatal diabetes mellitus, Internal medicine, Diabetes Mellitus, medicine, Humans, Missense mutation, KCNJ11, 030212 general & internal medicine, Potassium Channels, Inwardly Rectifying, Monogenic Diabetes, Mutation, business.industry, Insulin, Infant, Newborn, Infant, medicine.disease, 3. Good health, Ketoacidosis, Postprandial, Pediatrics, Perinatology and Child Health, Female, hyperglycemia, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53c210521ecee570da736783bb8ea61e
https://doi.org/10.4274/jcrpe.5166

المؤلفون: Ümit Zübarioğlu, Sian Ellard, Oya Ercan, Aydilek Dağdeviren, Hande Erdoğan, Emel Ataoglu, Olcay Evliyaoğlu, Bahar Ozcabi, Elisa De Franco

المصدر: Journal of Clinical Research in Pediatric Endocrinology

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Birth weight, medicine.medical_treatment, Case Report, 030209 endocrinology & metabolism, pancreas agenesis, medicine.disease_cause, Infant, Newborn, Diseases, Consanguinity, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Endocrinology, Neonatal diabetes mellitus, Diabetes Mellitus, Humans, Medicine, KCNJ11, Potassium Channels, Inwardly Rectifying, Pancreas, Mutation, business.industry, Insulin, Neonatal diabetes, Infant, Pancreatic Diseases, medicine.disease, 3. Good health, 030104 developmental biology, medicine.anatomical_structure, PTF1A, Child, Preschool, Agenesis, Pediatrics, Perinatology and Child Health, Cancer research, Small for gestational age, Female, Psychomotor Disorders, business, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f22ae237e69c5c57168a04e6ce9f04a
https://doi.org/10.4274/jcrpe.5162

المؤلفون: Mohamed, Zainaba, Arya, Ved Bhushan, Hussain, Khalid

المصدر: Journal of Clinical Research in Pediatric Endocrinology

مصطلحات موضوعية: hypoglycaemia in infancy, Receptors, Drug, Endocrinology, Diabetes and Metabolism, hyperinsulinaemic hypoglycaemia, Review, Sulfonylurea Receptors, Hypoglycemia, congenital hyperinsulinism, Endocrinology, Hyperinsulinism, Mutation, Pediatrics, Perinatology and Child Health, Animals, Humans, ATP-Binding Cassette Transporters, Potassium Channels, Inwardly Rectifying

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c7ffc296f5593228e8c233f0d54b699
https://doi.org/10.4274/jcrpe.821