Metabolic disorders

Citations 1-10 of 11 total displayed.

A metabolic muscle disease

Muhammad Khizar Rafiq, Valerie Critcher, and Marios Hadjivassiliou
BMJ Case Reports doi: 10.1136/bcr.03.2009.1686 [Summary] [Full text] [Request Permissions]  

Dysgeusia in symptomatic syndrome of inappropriate antidiuretic hormone secretion: think of lung cancer

Nishith K Singh, Shelbi Hayes, Seth Hahs, and Andrew Varney
BMJ Case Reports doi: 10.1136/bcr.02.2009.1567 [Summary] [Full text] [Request Permissions]  

Abdominal pain and milky plasma

Nishith K Singh
BMJ Case Reports doi: 10.1136/bcr.04.2009.1761 [Extract] [Full text] [Request Permissions]  

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)

Erika Fernandez-Vizarra, Angela Berardinelli, Lucia Valente, Valeria Tiranti, and Massimo Zeviani
BMJ Case Reports doi: 10.1136/bcr.05.2009.1889 [Summary] [Full text] [Request Permissions]  

Non-alcoholic fatty liver disease in a patient with maturity onset diabetes in the young

Izhaq Masih and Werner McIlwaine
BMJ Case Reports doi: 10.1136/bcr.07.2008.0436 [Summary] [Full text] [Request Permissions]  

Hypoglycaemia and fits in a thyrotoxic man

Chamila Mettananda, H Janaka de Silva, and Roshane Fernando
BMJ Case Reports doi: 10.1136/bcr.07.2008.0448 [Summary] [Full text] [Request Permissions]  

A report of succinate dehydrogenase B deficiency associated with metastatic papillary renal cell carcinoma: successful treatment with the multi-targeted tyrosine kinase inhibitor sunitinib

Mark Tuthill, Ravi Barod, Linda Pyle, Terry Cook, Shern Chew, Martin Gore, Patrick Maxwell, and Tim Eisen
BMJ Case Reports doi: 10.1136/bcr.08.2008.0732 [Summary] [Full text] [Request Permissions]  

Mediastinal mayhem

Ronak Rajani, Sandeep Gandhi, and Roberta Lima Brum
BMJ Case Reports doi: 10.1136/bcr.06.2008.0194 [Extract] [Full text] [Request Permissions]  

Possible case of peripheral osmotic demyelination syndrome

P J Serrano-Castro, G Alonso-Verdegay, G López-Martínez, A Arjona-Padillo, J R Callejón, V M Olmedo, P Guardado-Santervás, A Huete-Hurtado, J Olivares-Romero, and C Naranjo Fernández
BMJ Case Reports doi: 10.1136/bcr.08.2008.0710 [Summary] [Full text] [Request Permissions]  

Relapsing encephalopathy in a patient with -methylacyl-CoA racemase deficiency

Sian A Thompson, Jacqui Calvin, Sarah Hogg, Sacha Ferdinandusse, Ronald J A Wanders, and Roger A Barker
BMJ Case Reports doi: 10.1136/bcr.08.2008.0814 [Summary] [Full text] [Request Permissions]