Results 1 to 10 of about 16,326 (211)

A Deep Clinical and Biochemical Characterization of a Patient With Combined Malonic and Methylmalonic Aciduria (CMAMMA). [PDF]

JIMD Rep
ABSTRACT Combined malonic and methylmalonic aciduria (CMAMMA) is an inborn error of metabolism caused by a deficiency in mitochondrial malonyl‐CoA synthetase, the enzyme responsible for activating malonic acid (MA) to malonyl‐CoA, a precursor of lipoic acid.
Gragnaniello V, Galderisi A, Tucci S, Doimo M, Caterino M, Loro C, Cazzorla C, Ruoppolo M, Salviati L, Burlina AB.   +9 more
europepmc   +2 more sources

Pancreatic endocrine and exocrine function in children following near-total pancreatectomy for diffuse congenital hyperinsulinism. [PDF]

, 2016
Published onlineJournal ArticleCONTEXT: Congenital hyperinsulinism (CHI), the commonest cause of persistent hypoglycaemia, has two main histological subtypes: diffuse and focal.
Alam, S, Arya, VB, Demirbilek, H, Ellard, S, Flanagan, SE, Hussain, K, Senniappan, S   +6 more
core   +3 more sources

Hyperinsulinism-hyperammonemia syndrome associated with GLUD1 gene mutation: a case series. [PDF]

J Med Case Rep
Abdulghfar MM, Alsagheir A, Abdullah IA, Alhuthil R.   +3 more
europepmc   +3 more sources

Characterization of congenital hyperinsulinism in Argentina: Clinical features, genetic findings, and treatment outcomes. [PDF]

PLoS One
Pacheco G, Bastida MG, Cáceres J, Alonso G, Aziz M, Suarez M, Flores A, Femenia V, Forclaz MV, Houghton JAL, Bennett JJ, Martin S, Flanagan SE, Tangari-Saredo A.   +13 more
europepmc   +4 more sources

The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism [PDF]

Frontiers in Endocrinology, 2019
Huseyin Demirbilek, Khalid Hussain
exaly   +2 more sources

Long-term medical treatment in congenital hyperinsulinism: a descriptive analysis in a large cohort of patients from different clinical centers [PDF]

, 2015
Alena Welters, Burak Salgin, Christian Lerch, Ertan Mayatepek, Jan Marquard, Sebastian Kummer, Thomas Meissner   +6 more
core   +3 more sources

Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage [PDF]

, 2015
Arianna Maiorana, Lucilla Manganozzi, Fabrizio Barbetti, S. Bernabei, Giorgia Gallo, Raffaella Cusmai, Stefania Caviglia, Carlo Dionisi‐Vici   +7 more
core   +3 more sources

Congenital hyperinsulinism

Tidsskrift for Den norske legeforening, 2023
This clinical review will give doctors who work with children and neonates an introduction to the diagnosis and treatment of congenital hyperinsulinism, the most common cause of persistent neonatal hypoglycaemia. The condition is a rare monogenic disorder characterised by elevated insulin secretion and is a result of mutations in genes that regulate ...
Christoffer Drabløs, Velde, Hallvard, Reigstad, Erling, Tjora, Hans Jørgen Timm, Guthe, Eirik Vangsøy, Hansen, Anders, Molven, Pål Rasmus, Njølstad   +6 more
openaire   +2 more sources

Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations [PDF]

, 2010
Objective: The phenotype associated with heterozygous HNF4A gene mutations has recently been extended to include diazoxide responsive neonatal hypoglycemia in addition to maturity-onset diabetes of the young (MODY).
Ashcroft, B Schwahn, Clayton, D Cody, Ellard, Freeman, G Mali, I Banerjee, J P H Shield, K Hussain, Molven, N Murphy, O Rubio-Cabezas, R R Kapoor, S E Flanagan, S Ellard, Stanley, T Akcay, T Siahanidou, Thomas   +19 more
core   +2 more sources

Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations [PDF]

, 2009
Background: Activating mutations in the GLUD1 gene (which encodes for the intra-mitochondrial enzyme glutamate dehydrogenase, GDH) cause the hyperinsulinism–hyperammonaemia (HI/HA) syndrome.
Banerjee, I., Ben-Omran, T., Chadefaux, B., Chakrapani, A., Ellard, S., Flanagan, S. E, Fulton, P., Hussain, K., Kapoor, R. R, Shield, J. P   +9 more
core   +2 more sources