A Molven, GE Matre, M Duran, RJ Wanders, U … - Diabetes, 2004 - Am Diabetes Assoc Inappropriately elevated insulin secretion is the hallmark of persistent
hyperinsulinemic hypoglycemia of infancy (PHHI), also denoted congenital
hyperinsulinism. Causal mutations have been uncovered in genes coding for ... Cited by 68 - Related articles - BL Direct - All 5 versions
K Hussain, PT Clayton, S Krywawych, I … - The Journal of pediatrics, 2005 - Elsevier Short-, medium-, and long-chain 3-hydroxyacyl-CoA dehydrogenase activity was
measured in fibroblasts as described previously. 6 The protein was normalized to
supernatant protein rather than total cellular protein. Proteins were ... Cited by 27 - Related articles - All 5 versions
- ►nih.gov PT Clayton, S Eaton, A Aynsley-Green, M … - Journal of Clinical Investigation, 2001 - Am Soc Clin Investig A female infant of nonconsanguineous Indian parents presented at 4 months with a
hypoglycemic convulsion. Further episodes of hypoketotic hypoglycemia were
associated with inappropriately elevated plasma insulin concentrations. ... Cited by 113 - Related articles - BL Direct - All 9 versions
S Eaton, I Chatziandreou, S Krywawych, S Pen … - Biochemical Society Transactions, 2003 - bst.portlandpress.com Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with
hyperinsulinism: a novel glucose–fatty acid cycle? ... Key words:
b-oxidation, carnitine palmitoyltransferase I (CPT I), 3-hydroxyacyl-CoA ... Cited by 18 - Related articles - Cached - BL Direct - All 11 versions
CA Stanley - Molecular genetics and metabolism, 2004 - Elsevier The second most common form of congenital hyperinsulinism, the
hyperinsulinism/hyperammonemia syndrome (HI/HA), is associated with dominantly
expressed missense mutations of the mitochondrial matrix enzyme, glutamate ... Cited by 30 - Related articles - All 4 versions
DM Raizen, A Brooks-Kayal, L Steinkrauss, GI … - The Journal of pediatrics, 2005 - Elsevier Nine patients had seizures as the first symptom of HI/HA, and six had seizures
in the absence of hypoglycemia. No electroencephalogram (EEG) background
abnormalities were identified. In four patients, EEG recordings during ... Cited by 31 - Related articles - All 4 versions
- ►nih.gov H Huopio, F Reimann, R Ashfield, J … - Journal of Clinical Investigation, 2000 - Am Soc Clin Investig ATP-sensitive potassium channels play a major role in linking metabolic signals
to the exocytosis of insulin in the pancreatic β cell. These channels consist
of two types of protein subunit: the sulfonylurea receptor SUR1 and the ... Cited by 118 - Related articles - BL Direct - All 9 versions
- ►diabetesjournals.org PS Thornton, C MacMullen, A Ganguly, E … - Diabetes, 2003 - Am Diabetes Assoc Recessive mutations of sulfonylurea receptor 1 (SUR1) and potassium inward
rectifier 6.2 (Kir6.2), the two adjacent genes on chromosome 11p that comprise
the β-cell plasma membrane ATP-sensitive K + (K ATP ) channels, are ... Cited by 51 - Related articles - BL Direct - All 4 versions
FM Hoe, PS Thornton, LA Wanner, L … - The Journal of pediatrics, 2006 - Elsevier Among the 26 neonates, there were significantly more males,
small-for-gestational-age infants, and cesarean deliveries. Only 5 of the 26 had
no identifiable risk factor. Hyperinsulinism was diagnosed at a median age ... Cited by 19 - Related articles - All 14 versions
P de Lonlay, JC Fournet, G Touati, MS Groos, … - European journal of pediatrics, 2002 - Springer P. de Lonlay (&) á G. Touati á D. Martin á C. Sevin V. Delagne á J.-M.
Saudubray á J.-J. Robert FeÂdeÂration de PeÂdiatrie, HoÃpital
Necker-Enfants-Malades, 149 rue de SeÁvres, 75743 Paris cedex 15, France ... Cited by 72 - Related articles - BL Direct - All 4 versions
