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Browsing publications by Dr Morteza Pourfarzam

Newcastle AuthorsTitleYearFull text
Dr Morteza Pourfarzam
Methylmalonic acidaemia: Examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group2008
Dr Morteza Pourfarzam
Emeritus Professor Doug Turnbull
Dr Andrew Morris
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency2007
Dr Morteza Pourfarzam
Consensus case definitions for MCADD among infants with presumptive positive newborn screening results2006
Dr Morteza Pourfarzam
Emeritus Professor Doug Turnbull
So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager2006
Dr Morteza Pourfarzam
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency2005
Jose Osorio Orozco
Dr Morteza Pourfarzam
Early diagnosis of neurometabolic diseases by tandem mass spectrometry. Acylcarnitine profile from cord blood2004
Dr Morteza Pourfarzam
Dr Andrew Morris
Dr Raul Dias
Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency2004
Emerita Professor Zofia Chrzanowska-Lightowlers
Dr Morteza Pourfarzam
Professor Robert Taylor
Emeritus Professor Doug Turnbull
A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency2003
Dr Morteza Pourfarzam
Glutaryl-CoA Dehydrogenase Deficiency: Region-Specific Analysis of Organic Acids and Acylcarnitines in post mortem Brain Predicts Vulnerability of the Putamen2003
Dr Andrew Morris
Emeritus Professor Doug Turnbull
Dr Morteza Pourfarzam
Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency2003
Professor Tiina Tyni
Dr Morteza Pourfarzam
Emeritus Professor Doug Turnbull
Analysis of mitochondrial fatty acid oxidation intermediates by tandem mass spectrometry from intact mitochondria prepared from homogenates of cultured fibroblasts, skeletal muscle cells, and fresh muscle2002
Professor Kim Bartlett
Dr Morteza Pourfarzam
Defects of beta-oxidation including carnitine deficiency2002
Professor Kim Bartlett
Dr Morteza Pourfarzam
Defects of β-oxidation including carnitine deficiency2002
Professor Tiina Tyni
Dr Simon Eaton
Dr Morteza Pourfarzam
Dr Richard Andrews
Emeritus Professor Doug Turnbull
Mitochondrial fatty acid beta-oxidation in the retinal pigment epithelium2002
Jose Osorio Orozco
Dr Morteza Pourfarzam
Plasma free and total carnitine measured in children by tandem mass spectrometry2002
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