D Kotzot - British Medical Journal, 2008 - jmg.bmj.com Results: In total, 26 cases with segmental UPD and a normal karyotype, 38 cases
with UPD of a whole chromosome and a simple reciprocal or non-homologous
Robertsonian translocation, four cases each with two isochromosomes and UPD ... Cited by 4 - Related articles - All 6 versions
SE Flanagan, S Clauin, C Bellanné-Chantelot, … - Hum Mutat, 2009 - interscience.wiley.com The beta-cell ATP-sensitive potassium (K ATP ) channel is a key component of
stimulus-secretion coupling in the pancreatic beta-cell. The channel couples
metabolism to membrane electrical events bringing about insulin secretion. ... Cited by 4 - Related articles - All 3 versions
L Damaj, M le Lorch, V Verkarre, C Werl, L … - Journal of Clinical Endocrinology & Metabolism, 2008 - Endocrine Soc Context: Focal forms of congenital hyperinsulinism are due to a constitutional
heterozygous mutation of paternal origin in the ABCC8 gene, more often than the
KCNJ11 gene, located in the 11p15.1 region. This mutation is associated ... Cited by 3 - Related articles - All 3 versions
J Zschocke - Journal of Inherited Metabolic Disease, 2008 - Springer Summary Inborn errors of metabolism used to be regarded as simple monogenic
traits, but a closer look at how different alleles of a gene determine different
phenotypes shows that the molecular mechanisms in the individual case are ... Cited by 2 - Related articles - All 3 versions
RR Kapoor, C James, K Hussain - Nature Clinical Practice Endocrinology & Metabolism, 2009 - nature.com Dr Ritika Kapoor is a Clinical Research Fellow and Honorary Specialist Registrar
at the Institute of Child Health University College London and Great Ormond
Street Hospital for Children National Health Services Trust in London, UK. ... Cited by 2 - Related articles - All 3 versions
C James, RR Kapoor, D Ismail, K Hussain - British Medical Journal, 2009 - jmg.bmj.com Congenital hyperinsulinism (CHI) is biochemically characterised by the
dysregulated secretion of insulin from pancreatic β-cells. It is a major cause
of persistent hyperinsulinaemic hypoglycaemia (HH) in the newborn and ... Related articles - All 3 versions
- ►fetalneonatal.com RR Kapoor, SE Flanagan, C James, J Shield, … - Archives of Disease in Childhood, 2009 - adc.bmjjournals.com.p.angrylapdog.com Hyperinsulinaemic hypoglycaemia (HH) occurs as a consequence of unregulated
insulin secretion from pancreatic β cells. In the newborn period it is the most
common cause of severe and persistent hypoglycaemia. As HH is a major risk ... Related articles - All 5 versions
M Houseni, W Chamroonrat, H Zhuang, MG … - PET Clinics, 2008 - Elsevier Congenital hyperinsulinism is the principle cause of hypoglycemia during infancy
but successful treatment is difficult and persistent hypoglycemia carries the
risk of neurologic damage. Focal and diffuse abnormalities are the common ... Related articles