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1دورية أكاديمية
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
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2دورية أكاديمية
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
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3دورية أكاديمية
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
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4دورية أكاديمية
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
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5دورية أكاديمية
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
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6دورية أكاديمية
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
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7دورية أكاديمية
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