Metabolic disorders

Citations 1-10 of 242 total displayed.

Letters to JMG
A common UCP2 polymorphism predisposes to stress hyperglycaemia in severe sepsis

A Pyle, I M Ibbett, C Gordon, S M Keers, M Walker, P F Chinnery, S V Baudouin
J. Med. Genet. 2009 46: 773 -775; published online before print as 10.1136/jmg.2009.067173 [Abstract] [Full text] [PDF] [Request Permissions]  

Mutation reports
The unfolding clinical spectrum of POLG mutations

M J Blok, B J van den Bosch, E Jongen, A Hendrickx, C E de Die-Smulders, J E Hoogendijk, E Brusse, M de Visser, B T Poll-The, J Bierau, I F de Coo, H J Smeets
J. Med. Genet. 2009 46: 776 -785; published online before print as 10.1136/jmg.2009.067686 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Original articles
Natural course of Fabry disease: changing pattern of causes of death in FOS – Fabry Outcome Survey

A Mehta, J T R Clarke, R Giugliani, P Elliott, A Linhart, M Beck, G Sunder-Plassmann, on behalf of the FOS Investigators
J. Med. Genet. 2009 46: 548 -552; published online before print as 10.1136/jmg.2008.065904 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendix ]  

Letters to JMG
Association of RASGRP1 with type 1 diabetes is revealed by combined follow-up of two genome-wide studies

H Q Qu, S F A Grant, J P Bradfield, C Kim, E Frackelton, H Hakonarson, C Polychronakos
J. Med. Genet. 2009 46: 553 -554; published online before print as 10.1136/jmg.2009.067140 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendix ]  

Letters to JMG
The effect of the MHC locus on autoantibodies in type 1 diabetes

H-Q Qu, C Polychronakos
J. Med. Genet. 2009 46: 469 -471; published online before print as 10.1136/jmg.2009.066647 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendix ]  

Review
The genetic basis of congenital hyperinsulinism

C James, R R Kapoor, D Ismail, K Hussain
J. Med. Genet. 2009 46: 289 -299; published online before print as 10.1136/jmg.2008.064337 [Abstract] [Full text] [PDF] [Request Permissions]  

Mutation reports
Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations

M Bourbon, M A Duarte, A C Alves, A M Medeiros, L Marques, A K Soutar
J. Med. Genet. 2009; 46: 352-357. [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendices ]  

Mutation reports
Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA

I García-Consuegra, J C Rubio, G Nogales-Gadea, J Bautista, S Jiménez, A Cabello, A Lucía, A L Andreu, J Arenas, M A Martin
J. Med. Genet. 2009; 46: 198-202. [Abstract] [Full text] [PDF] [Request Permissions]  

Mutation reports
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children

J D Stewart, S Tennant, H Powell, A Pyle, E L Blakely, L He, G Hudson, M Roberts, D du Plessis, D Gow, L D Mewasingh, M G Hanna, S Omer, A A Morris, R Roxburgh, J H Livingston, R McFarland, D M Turnbull, P F Chinnery, R W Taylor
J. Med. Genet. 2009; 46: 209-214. [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Six new coeliac disease loci replicated in an Italian population confirm association with coeliac disease

J Romanos, D Barisani, G Trynka, A Zhernakova, M T Bardella, C Wijmenga
J. Med. Genet. 2009 46: 60 -63; published online before print as 10.1136/jmg.2008.061457 [Abstract] [Full text] [PDF] [Request Permissions]