EC van Hove, T Hansen, JM Dekker, E Reiling, G … - Diabetes, 2006 - Am Diabetes Assoc The short-chain l-3-hydroxyacyl-CoA dehydrogenase (SCHAD) protein is involved in the penultimate
step of mitochondrial fatty acid oxidation. Previously, it has been shown that mutations in the
corresponding gene (HADHSC) are associated with hyperinsulinism in infancy. The ... Cited by 1 - Related articles - BL Direct - All 7 versions
EC van Hove, T Hansen, JM Dekker, E Reiling, G … - DIABETES, 2006 - Am Diabetes Assoc Page 1. Brief Genetics Report The HADHSC Gene Encoding Short-Chain L -3-Hydroxyacyl-CoA
Dehydrogenase (SCHAD) and Type 2 Diabetes Susceptibility The DAMAGE Study Els C. van
Hove, 1 Torben Hansen, 2 Jacqueline M. Dekker, 3 Erwin Reiling, 1 Giel Nijpels, 3 ... Related articles
M Ribeiro, N Boddaert, T Delzescaux, V … - Endocrine …, 2007 - content.karger.com Abstract Congenital hyperinsulinism (HI) ofinfancy,the mostfrequentcause ofhypoglycaemia in
young children, is a neuro-endocrine disease secondary to either focal adenomatous hyperplasia
or a diffuse abnormal pancreatic insulin secretion. This inappropriate secretion of insulin ... Cited by 4 - Related articles - BL Direct - All 4 versions
TGJ Derks, TS Boer, A van Assen, T Bos, J Ruiter, … - Journal of Inherited …, 2008 - Springer TGJ Derks & TS Boer & A. van Assen & T. Bos & J. Ruiter & HR Waterham & KE Niezen-Koning
& RJA Wanders & JMM Rondeel & JG Loeber & LP ten Kate & GPA Smit & D.-J. Reijngoud ...
Received: 16 October 2006 / Submitted in revised form: 27 October 2007 / Accepted: 30 ... Cited by 4 - Related articles - BL Direct - All 2 versions
HM Knight, A Maclean, M Irfan, F Naeem, S Cass, … - European Journal of …, 2008 - nature.com Homozygosity mapping within consanguineous families is a powerful method of localising genes
for autosomal recessive disease. We investigated a family from Punjab, Pakistan, a region where
consanguineous marriages are frequent. The parents have no detectable clinical ... Cited by 4 - Related articles - BL Direct - All 4 versions
VL Ramprasad, N Soumittra, D Nancarrow, P … - Molecular …, 2008 - pubmedcentral.nih.gov Leber congenital amaurosis (LCA) is one of the most common causes of hereditary blindness
in infants. To date, mutations in 13 known genes and at two other loci have been implicated in
LCA causation. An examination of the known genes highlights several processes which, ... Cited by 4 - Related articles - All 6 versions
N Bahi-Buisson, S El Sabbagh, C Soufflet, F … - … : European Journal of …, 2008 - Elsevier Activating mutations in glutamate dehydrogenase (GDH), de novo or dominantly inherited, are
responsible for the hyperinsulinism/hyperammonemia (HI/HA) syndrome. Epilepsy has been
frequently reported in association with mutations in GDH, but the epilepsy phenotype has ... Cited by 4 - Related articles - All 9 versions
K Hussain, A Aynsley-Green - International Journal of Biochemistry and Cell …, 2003 - Elsevier Hyperinsulinism in infancy (HI) is the commonest cause of persistent and recurrent hypoglycaemia
in the infancy and childhood period. HI is a heterogeneous disorder with respect to clinical
presentation, histology, molecular biology and genetics. Recent advances have provided ... Cited by 4 - Related articles - All 4 versions
[CITATION] 't Hart LM, van Essen E, Heine RJ, Nijpels G, Jahangir Tafrechi RS, Raap AK, …
RR Kapoor, C Gilbert, K Mohnike, O … - BMJ Case …, 2009 - casereports.bmj.com Congenital hyperinsulinism (CHI) is a cause of severe hypoglycaemia in the neonatal
period. 1 The histological differentiation of CHI into focal and diffuse disease has radically changed
the surgical management of patients with the disease. 2 Correct localisation and limited ... Cited by 5 - Related articles - BL Direct - All 4 versions
