ISSN:1308-5727
E-ISSN:1308-5735
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ISSN:1308-5727
E-ISSN:1308-5735
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Case Report
Transient Neonatal Diabetes due to a Mutation in KCNJ11 in a Child with Klinefelter Syndrome
Amanda R. Dahl
Radhika Dhamija
Alaa Al Nofal
Siobhan T. Pittock
W. Frederick Schwenk
Seema Kumar
J Clin Res Pediatr Endocrinol 2018; 10: 79-82
DOI: 10.4274/jcrpe.4807
PMID:28766502
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Wolcott-Rallison Syndrome Due to a Novel Mutation (R491X) in EIF2AK3 Gene
Ercan Mıhçı
Doğa Tu¨rkkahraman
Sian Ellard
Sema Akçurin
İffet Bircan
J Clin Res Pediatr Endocrinol 2012; 4: 101-103
DOI: 10.4274/Jcrpe.619
PMID:22672868
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Permanent Neonatal Diabetes Mellitus: Same Mutation, Different Glycemic Control with Sulfonylurea Therapy on Long-Term Follow-up
Banu Küçükemre Ay
Rüveyde Bundak
Firdevs Baş
Hülya Maraş
Nurçin Saka
Hülya Günöz
Feyza Darendeliler
J Clin Res Pediatr Endocrinol 2012; 4: 107-110
DOI: 10.4274/Jcrpe.524
PMID:22672870
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Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene
Monica Gabbay
Sian Ellard
Elisa De Franco
Regina S. Moisés
J Clin Res Pediatr Endocrinol 2017; 9: 274-277
DOI: 10.4274/jcrpe.4494
PMID:28663161
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Case Report
Transient Neonatal Diabetes Mellitus in a Turkish Patient with Three Novel Homozygous Variants in the ZFP57 Gene
Mehmet Boyraz
Korkut Ulucan
Necati Taşkın
Teoman Akçay
E. Flanagan Sarah
Deborah J. G. Mackay
J Clin Res Pediatr Endocrinol 2013; 5: 125-128
DOI: 10.4274/Jcrpe.928
PMID:23748067
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Case Reports
Neonatal Diabetes Mellitus Accompanied by Diabetic Ketoacidosis and Mimicking Neonatal Sepsis: A Case Report
Ayhan Abacı
Cem Hasan Razi
Osman Özdemir
Samil Hızlı
Fatih Kıslal
Pınar Işık Argas
Nimet Kabakuş
J Clin Res Pediatr Endocrinol 2010; 2: 131-133
DOI: 10.4274/jcrpe.v2i3.131
PMID:21274328
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Short Communication
An ABCC8 Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression
Sarah E. Flanagan
Vu Chí Dung
Jayne A. L. Houghton
Elisa De Franco
Can Thi Bich Ngoc
Annet Damhuis
Frances M. Ashcroft
Lorna W. Harries
Sian Ellard
J Clin Res Pediatr Endocrinol 2017; 9: 260-264
DOI: 10.4274/jcrpe.4624
PMID:28663158
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Letter to the Editor
Wolcott-Rallison Syndrome with Novel EIF2AK3 Gene Mutation
Fatih Gürbüz
Bilgin Yüksel
Ali Kemal Topaloğlu
J Clin Res Pediatr Endocrinol 2016; 8: 496-497
DOI: 10.4274/jcrpe.3065
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