Characterisation of new KATP-channel mutations associated with congenital hyperinsulinism in the Finnish population [PDF]
, 2003 Frank Reimann +7 more
openalex +1 more source
Genome MedicineBackground We recently reported non-coding variants in a cis-regulatory element of the beta-cell disallowed gene hexokinase 1 (HK1) as a novel cause of congenital hyperinsulinism.
Jasmin J. Bennett +22 more
doaj +1 more source
Congenital hyperinsulinism in Gran Canaria, Canary Isles
Anales de Pediatría (English Edition), 2021 Introduction: Congenital hyperinsulinism (CH) is a severe disorder characterised by the appearance of severe hypoglycaemia. Pathogenic mutations in the ABCC8 and KCNJ11 genes are the most frequent cause, although its appearance also been associated to ...
Yeray Nóvoa-Medina +4 more
doaj
Erratum to: Characterisation of new KATP-channel mutations associated with congenital hyperinsulinism in the Finnish population [PDF]
, 2003 Frank Reimann +7 more
openalex +1 more source
Software Based Higher Order Structural Foot Abnormality Detection Using Image Processing [PDF]
arXiv, 2019 The entire movement of human body undergoes through a periodic process named Gait Cycle. The structure of human foot is the key element to complete the cycle successfully. Abnormality of this foot structure is an alarming form of congenital disorder which results a classification based on the geometry of the human foot print image.
arxiv
Preoperative Evaluation of Infants with Focal or Diffuse Congenital Hyperinsulinism by Intravenous Acute Insulin Response Tests and Selective Pancreatic Arterial Calcium Stimulation [PDF]
, 2004 Charles A. Stanley +11 more
openalex +1 more source
The importance and impact of discoveries about neural crest fates [PDF]
Development (Cambridge, England), Company of Biologists, In press, 2018 We review here some of the historical highlights in exploratory studies of the vertebrate embryonic structure known as the neural crest. The study of the molecular properties of the cells that it produces, their migratory capacities and plasticity, and the still-growing list of tissues that depend on their presence for form and function, continue to ...
arxiv
Acute Insulin Responses to Calcium and Tolbutamide Do Not Differentiate Focal from Diffuse Congenital Hyperinsulinism [PDF]
, 2004 Irina Giurgea +16 more
openalex +1 more source
Laparoscopic resection of pancreatic neck lesion with Roux-en-Y pancreatico-jejunostomy
Journal of Pediatric Surgery Case Reports, 2019 Background: Congenital hyperinsulinism is a rare disease and patients not responding to medical treatment need near-total or partial pancreatectomy, dependent on whether they have diffuse or focal hyperinsulinism, respectively.
Martin Sidler +3 more
doaj
Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism [PDF]
, 2005 Mariko Suchi +6 more
openalex +1 more source