Articles

ISSN:1308-5727 E-ISSN:1308-5735

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

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

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

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

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

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

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

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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Latest Update: 30.11.2020