Metabolic disorders

Citations 11-20 of 242 total displayed.

Review
Pseudomitochondrial genome haunts disease studies

Y-G Yao, Q-P Kong, A Salas, H-J Bandelt
J. Med. Genet. 2008 45: 769 -772; published online before print as 10.1136/jmg.2008.059782 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
A PCSK9 variant and familial combined hyperlipidaemia

M Abifadel, L Bernier, G Dubuc, G Nuel, J-P Rabès, J Bonneau, A Marques, M Marduel, M Devillers, A Munnich, D Erlich, M Varret, M Roy, J Davignon, C Boileau
J. Med. Genet. 2008 45: 780 -786; published online before print as 10.1136/jmg.2008.059980 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Reversible phenotype in a mouse model of Hutchinson–Gilford progeria syndrome

H Sagelius, Y Rosengardten, E Schmidt, C Sonnabend, B Rozell, M Eriksson
J. Med. Genet. 2008 45: 794 -801; published online before print as 10.1136/jmg.2008.060772 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Genetic analysis of 56 polymorphisms in 17 genes involved in methionine metabolism in patients with abdominal aortic aneurysm

B Giusti, C Saracini, P Bolli, A Magi, I Sestini, E Sticchi, G Pratesi, R Pulli, C Pratesi, R Abbate
J. Med. Genet. 2008 45: 721 -730; published online before print as 10.1136/jmg.2008.057851 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendices ]  

Mutation report
Phenotypic variability among patients with hyperornithinaemia–hyperammonaemia–homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15

F-G Debray, M Lambert, B Lemieux, J F Soucy, R Drouin, D Fenyves, J Dubé, B Maranda, R Laframboise, G A Mitchell
J. Med. Genet. 2008; 45: 759-764. [Abstract] [Full text] [PDF] [Request Permissions]  

Mutation report
Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene

S Chabrier, N Monnier, J Lunardi
J. Med. Genet. 2008; 45: 686-688. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Prevalence and heritability of the metabolic syndrome and its individual components in a Dutch isolate: the Erasmus Rucphen Family study

P Henneman, Y S Aulchenko, R R Frants, K W van Dijk, B A Oostra, C M van Duijn
J. Med. Genet. 2008 45: 572 -577; published online before print as 10.1136/jmg.2008.058388 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
A systematic review of the clinical validity and clinical utility of DNA testing for hereditary haemochromatosis type 1 in at-risk populations

J Bryant, K Cooper, J Picot, A Clegg, P Roderick, W Rosenberg, C Patch
J. Med. Genet. 2008 45: 513 -518; published online before print as 10.1136/jmg.2007.055806 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Termination of damaged protein repair defines the occurrence of symptoms in carriers of the m.3243A>G tRNA^Leu mutation

R G E van Eijsden, L M T Eijssen, P J Lindsey, C M M van den Burg, L E A de Wit, M E Rubio-Gozalbo, C E M de Die, T Ayoubi, W Sluiter, I F M de Coo, H J M Smeets
J. Med. Genet. 2008 45: 525 -534; published online before print as 10.1136/jmg.2008.057497 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Mutation report
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy

R Mineri, M Rimoldi, A B Burlina, S Koskull, C Perletti, B Heese, U von Döbeln, P Mereghetti, I Di Meo, F Invernizzi, M Zeviani, G Uziel, V Tiranti
J. Med. Genet. 2008; 45: 473-478. [Abstract] [Full text] [PDF] [Request Permissions]