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Items: 1 to 20 of 212

1.
Genetic Heterogeneity and Challenges in the Management of Permanent Neonatal Diabetes Mellitus: A Single-Centre Study from South India
Sophy Korula, Lavanya Ravichandran, Praveen G. Paul, Jabasteen Johnson, Aaron Chapla, Sridhar Santhanam, Anna Simon, Sarah Mathai
Indian J Endocrinol Metab. 2022 Jan-Feb; 26(1): 79–86. Published online 2022 Apr 27. doi: 10.4103/ijem.ijem_429_21
PMCID:
PMC9162257
ArticlePDF–929K
2.
Homozygous Insulin Promotor Gene Mutation Causing Permanent Neonatal Diabetes Mellitus and Childhood Onset Autoantibody Negative Diabetes in the Same Family
Basma Haris, Idris Mohammed, Sara Al-Khawaga, Khalid Hussain
Int Med Case Rep J. 2022; 15: 35–41. Published online 2022 Feb 1. doi: 10.2147/IMCRJ.S349424
PMCID:
PMC8819275
ArticlePDF–2.0M
3.
Meglitinide (repaglinide) therapy in permanent neonatal diabetes mellitus: two case reports
Maryam Razzaghy-Azar, Mitra Nourbakhsh, Ali Talea, Mahsa Mohammad Amoli, Mona Nourbakhsh, Bagher Larijani
J Med Case Rep. 2021; 15: 535. Published online 2021 Oct 25. doi: 10.1186/s13256-021-03052-5
PMCID:
PMC8543822
ArticlePDF–897K
4.
Severe Developmental Delay, Epilepsy and Neonatal Diabetes (DEND) Syndrome: A Case Report
Muhd Alwi Muhd Helmi, Suhaimi Hussain
J ASEAN Fed Endocr Soc. 2020; 35(1): 125–128. Published online 2020 Apr 25. doi: 10.15605/jafes.035.01.22
PMCID:
PMC7784171
ArticlePDF–1.4M
5.
A family with novel homozygous deletion mutation (c.1255delT; p.Phe419Serfs*12) in the glucokinase gene, which is a rare cause of permanent neonatal diabetes mellitus
Semih Bolu, Recep Eröz, Mustafa Doğan, İlknur Arslanoğlu, Hakan Uzun, Furkan Timur
Turk Pediatri Ars. 2020; 55(4): 434–437. Published online 2020 Dec 16. doi: 10.14744/TurkPediatriArs.2019.05882
PMCID:
PMC7750344
ArticlePDF–245K
6.
The clinical and genetic characteristics of permanent neonatal diabetes (PNDM) in the state of Qatar
Sara Al‐Khawaga, Idris Mohammed, Saras Saraswathi, Basma Haris, Reem Hasnah, Amira Saeed, Hakeem Almabrazi, Najeeb Syed, Puthen Jithesh, Ahmed El Awwa, Amal Khalifa, Fawziya AlKhalaf, Goran Petrovski, Essam M. Abdelalim, Khalid Hussain
Mol Genet Genomic Med. 2019 Oct; 7(10): e00753. Published online 2019 Aug 23. doi: 10.1002/mgg3.753
PMCID:
PMC6785445
ArticlePDF–2.0M
7.
STUDY OF KCNJ11 GENE MUTATIONS IN ASSOCIATION WITH MONOGENIC DIABETES OF INFANCY AND RESPONSE TO SULFONYLUREA TREATMENT IN A COHORT STUDY IN EGYPT
H.A. Madani, N. Fawzy, A. Afif, S. Abdelghaffar, N. Gohar
Acta Endocrinol (Buchar) 2016 Apr-Jun; 12(2): 157–160. doi: 10.4183/aeb.2016.157
PMCID:
PMC6535283
ArticlePDF–221K
8.
Development and stability study of glibenclamide oral liquid paediatric formulations for the treatment of permanent neonatal diabetes mellitus
Pablo Estevez, Oriana Boscolo, Eduardo Quiroga, Rocio Fernandez Penuto, Fabian Buontempo, Valeria Tripodi, Silvia Lucangioli
Eur J Hosp Pharm. 2016 Jul; 23(4): 213–218. Published online 2015 Dec 16. doi: 10.1136/ejhpharm-2015-000763
PMCID:
PMC6451472
ArticlePDF–487K
9.
Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation
Olcay Evliyaoğlu, Oya Ercan, Emel Ataloğlu, Ümit Zübarioğlu, Bahar Özcabı, Aydilek Dağdeviren, Hande Erdoğan, Elisa De Franco, Sian Ellard
J Clin Res Pediatr Endocrinol. 2018 Jun; 10(2): 168–174. Published online 2018 May 18. doi: 10.4274/jcrpe.5162
PMCID:
PMC5985387
ArticlePDF–1.1M
10.
Identification of Plasmid-Encoded sRNAs in a blaNDM-1-Harboring Multidrug-Resistance Plasmid pNDM-HK in Enterobacteriaceae
Hoi-Kuan Kong, Xuan Liu, Wai U. Lo, Qing Pan, Carmen O. K. Law, Ting F. Chan, Pak L. Ho, Terrence C. K. Lau
Front Microbiol. 2018; 9: 532. Published online 2018 Mar 27. doi: 10.3389/fmicb.2018.00532
PMCID:
PMC5880898
ArticlePDF–2.5M
11.
Permanent neonatal diabetes mellitus - a case report of a rare cause of diabetes mellitus in East Africa
Catherine Nyangabyaki-Twesigye, Michael Rugambwa Muhame, Silver Bahendeka
Afr Health Sci. 2015 Dec; 15(4): 1339–1341. doi: 10.4314/ahs.v15i4.37
PMCID:
PMC4765401
ArticlePDF–141K
12.
A new compound heterozygosis for inactivating mutations in the glucokinase gene as cause of permanent neonatal diabetes mellitus (PNDM) in double-first cousins
Adriana Mangue Esquiaveto-Aun, Maricilda Palandi De Mello, Maria Fernanda Vanti Macedo Paulino, Walter José Minicucci, Gil Guerra-Júnior, Sofia Helena Valente De Lemos-Marini
Diabetol Metab Syndr. 2015; 7: 101. Published online 2015 Nov 18. doi: 10.1186/s13098-015-0101-9
PMCID:
PMC4652399
ArticlePDF–1.3M
13.
Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel KCNJ11 mutation
Sung Yeon Ahn, Gu-Hwan Kim, Han-Wook Yoo
Korean J Pediatr. 2015 Aug; 58(8): 309–312. Published online 2015 Aug 21. doi: 10.3345/kjp.2015.58.8.309
PMCID:
PMC4573445
ArticlePDF–722K
14.
Attributes of carbapenemase encoding conjugative plasmid pNDM-SAL from an extensively drug-resistant Salmonella enterica Serovar Senftenberg
Anirban Sarkar, Gururaja P. Pazhani, Goutam Chowdhury, Amit Ghosh, Thandavarayan Ramamurthy
Front Microbiol. 2015; 6: 969. Published online 2015 Sep 15. doi: 10.3389/fmicb.2015.00969
PMCID:
PMC4569734
ArticlePDF–2.6M
15.
NDM-1 encoded by a pNDM-BJ01-like plasmid p3SP-NDM in clinical Enterobacter aerogenes
Zhenhong Chen, Hongxia Li, Jiao Feng, Yuxue Li, Xin Chen, Xuemin Guo, Weijun Chen, Li Wang, Lei Lin, Huiying Yang, Wenhui Yang, Jie Wang, Dongsheng Zhou, Changting Liu, Zhe Yin
Front Microbiol. 2015; 6: 294. Published online 2015 Apr 14. doi: 10.3389/fmicb.2015.00294
PMCID:
PMC4396501
ArticlePDF–1.6M
16.
Permanent neonatal diabetes mellitus in China
Ke Huang, Li Liang, Jun-feng Fu, Guan-pin Dong
BMC Pediatr. 2014; 14: 188. Published online 2014 Jul 23. doi: 10.1186/1471-2431-14-188
PMCID:
PMC4118223
ArticlePDF–282K
17.
Permanent Neonatal Diabetes Mellitus: Prevalence and Genetic Diagnosis in the SEARCH for Diabetes in Youth Study
Roopa Kanakatti Shankar, Catherine Pihoker, Lawrence M. Dolan, Debra Standiford, Angela Badaru, Dana Dabelea, Beatriz Rodriguez, Mary Helen Black, Giuseppina Imperatore, Andrew Hattersley, Sian Ellard, Lisa K. Gilliam, the SEARCH for Diabetes in Youth Study Group
Pediatr Diabetes. Author manuscript; available in PMC 2014 Jul 17.
Published in final edited form as: Pediatr Diabetes. 2013 May; 14(3): 174–180. Published online 2012 Oct 10. doi: 10.1111/pedi.12003
PMCID:
PMC4101463
ArticlePDF–353K
18.
Clinical and functional characterization of the Pro1198Leu ABCC8 gene mutation associated with permanent neonatal diabetes mellitus
Tomoyuki Takagi, Hiroto Furuta, Masakazu Miyawaki, Kazuaki Nagashima, Takeshi Shimada, Asako Doi, Shohei Matsuno, Daisuke Tanaka, Masahiro Nishi, Hideyuki Sasaki, Nobuya Inagaki, Norishige Yoshikawa, Kishio Nanjo, Takashi Akamizu
J Diabetes Investig. 2013 May 6; 4(3): 269–273. Published online 2013 Mar 11. doi: 10.1111/jdi.12049
PMCID:
PMC4015663
ArticlePDF–193K
19.
Changing the Treatment of Permanent Neonatal Diabetes Mellitus from Insulin to Glibenclamide in a 4-Month-Old Infant with KCNJ11 Activating Mutation
Homa Ilkhanipoor, Zohreh Karamizadeh
Int J Prev Med. 2013 Sep; 4(9): 1078–1081.
PMCID:
PMC3793492
ArticlePDF–486K
20.
Permanent neonatal diabetes mellitus
Abdulrahman Al-Matary, Mushtaq Hussain, Ahmed Nahari, Jaffar Ali
Am J Case Rep. 2012; 13: 143–145. Published online 2012 Jul 10. doi: 10.12659/AJCR.883242
PMCID:
PMC3616180
ArticlePDF–103K

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