Permanent Neonatal Diabetes Mellitus with Growth Disturbance, Developmental Delay, Epilepsy and Dysmorphic Features

Growth Disturbance ◽

Dysmorphic Features

Sulphonylurea treatment does not improve psychomotor development in children with KCNJ11 mutations causing permanent neonatal diabetes mellitus accompanied by developmental delay and epilepsy (DEND syndrome)

Diabetic Medicine ◽

10.1111/j.1464-5491.2007.02228.x ◽

2007 ◽

Vol 24 (10) ◽

pp. 1176-1178 ◽

Cited By ~ 10

Author(s):

Z. Sumnik ◽

S. Kolouskova ◽

J. K. H. Wales ◽

V. Komarek ◽

O. Cinek

Keyword(s):

Diabetes Mellitus ◽

Developmental Delay ◽

Neonatal Diabetes ◽

Psychomotor Development ◽

Sulphonylurea Treatment

Permanent neonatal diabetes mellitus: Epidemiology, mode of presentation, pathogenesis and growth

The Indian Journal of Pediatrics ◽

10.1007/bf02845526 ◽

1999 ◽

Vol 66 (3) ◽

pp. 363-373 ◽

Cited By ~ 4

Author(s):

Ashraf T. Soliman ◽

Mahmoud M. ElZalabany ◽

Bhasker Bappal ◽

Issa AlSalmi ◽

Vasantha de Silva ◽

...

Keyword(s):

Diabetes Mellitus ◽

Neonatal Diabetes ◽

Mode Of Presentation

A Family With Novel Homozygous Deletion Mutation (c.1255delT; p.Phe419Serfs*12) in GCK Gene Which is A Rare Cause of Permanent Neonatal Diabetes Mellitus

Türk Pediatri Arşivi ◽

10.14744/turkpediatriars.2019.05882 ◽

2019 ◽

Author(s):

Semih Bolu

Keyword(s):

Diabetes Mellitus ◽

Neonatal Diabetes ◽

Homozygous Deletion ◽

Deletion Mutation ◽

Sulfonylurea treatment outweighs insulin therapy in short-term metabolic control of patients with permanent neonatal diabetes mellitus due to activating mutations of the KCNJ11 (KIR6.2) gene

Diabetologia ◽

10.1007/s00125-006-0329-x ◽

2006 ◽

Vol 49 (9) ◽

pp. 2210-2213 ◽

Cited By ~ 39

Author(s):

G. Tonini ◽

C. Bizzarri ◽

R. Bonfanti ◽

M. Vanelli ◽

F. Cerutti ◽

...

Keyword(s):

Diabetes Mellitus ◽

Insulin Therapy ◽

Metabolic Control ◽

Neonatal Diabetes ◽

Short Term ◽

Activating Mutations

Permanent neonatal diabetes mellitus: clinical presentation and epidemiology in Oman

Archives of Disease in Childhood - Fetal and Neonatal Edition ◽

10.1136/fn.80.3.f209 ◽

1999 ◽

Vol 80 (3) ◽

pp. F209-F212 ◽

Cited By ~ 20

Author(s):

B. Bappal ◽

P. Raghupathy ◽

V. de Silva ◽

S. M. Al Khusaiby

Keyword(s):

Diabetes Mellitus ◽

Clinical Presentation ◽

Neonatal Diabetes ◽

649 A Case of Permanent Neonatal Diabetes Mellitus

Archives of Disease in Childhood ◽

10.1136/archdischild-2012-302724.0649 ◽

2012 ◽

Vol 97 (Suppl 2) ◽

pp. A188-A188

Author(s):

Z. Karabouta ◽

S. Ellard ◽

S. Flanagan ◽

D. Mackay ◽

J. Hamilton-Shield ◽

...

Keyword(s):

Diabetes Mellitus ◽

Neonatal Diabetes ◽

Permanent neonatal diabetes mellitus - a case report of a rare cause of diabetes mellitus in East Africa.

African Health Sciences ◽

10.4314/ahs.v15i4.37 ◽

2016 ◽

Vol 15 (4) ◽

pp. 1339 ◽

Cited By ~ 3

Author(s):

Catherine Nyangabyaki-Twesigye ◽

Michael Rugambwa Muhame ◽

Silver Bahendeka

Keyword(s):

Diabetes Mellitus ◽

Case Report ◽

East Africa ◽

Neonatal Diabetes ◽

Permanent neonatal diabetes mellitus due to KCNJ11 mutation in a Portuguese family: transition from insulin to oral sulfonylureas

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2011-0191 ◽

2012 ◽

Vol 25 (3-4) ◽

Cited By ~ 7

Author(s):

Juliette Dupont ◽

Carla Pereira ◽

Ana Medeira ◽

Rui Duarte ◽

Sian Ellard ◽

...

Keyword(s):

Diabetes Mellitus ◽

Neonatal Diabetes ◽

Family Transition ◽

A Mutation in the TMD0-L0 Region of Sulfonylurea Receptor-1 (L225P) Causes Permanent Neonatal Diabetes Mellitus (PNDM)

Diabetes ◽

10.2337/db06-1746 ◽

2007 ◽

Vol 56 (5) ◽

pp. 1357-1362 ◽

Cited By ~ 32

Author(s):

R. Masia ◽

D. D. De Leon ◽

C. MacMullen ◽

H. McKnight ◽

C. A. Stanley ◽

...

Keyword(s):

Diabetes Mellitus ◽

Neonatal Diabetes ◽

Sulfonylurea Receptor ◽

Sulfonylurea Receptor 1

Generation of permanent neonatal diabetes mellitus dogs with glucokinase point mutations through base editing

Cell Discovery ◽

10.1038/s41421-021-00304-y ◽

2021 ◽

Vol 7 (1) ◽

Author(s):

Xiaomin Wang ◽

Yanhui Liang ◽

Jianping Zhao ◽

Yuan Li ◽

Shixue Gou ◽

...

Keyword(s):

Diabetes Mellitus ◽

Point Mutations ◽

Neonatal Diabetes ◽

Base Editing ◽