Publications by Dr Morteza Pourfarzam - ePrints

Browsing publications by Dr Morteza Pourfarzam.

Newcastle Authors	Title	Year
Dr Morteza Pourfarzam	Methylmalonic acidaemia: Examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group	2008
Dr Morteza Pourfarzam Emeritus Professor Doug Turnbull Dr Andrew Morris	ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency	2007
Dr Morteza Pourfarzam	Consensus case definitions for MCADD among infants with presumptive positive newborn screening results	2006
Dr Morteza Pourfarzam Emeritus Professor Doug Turnbull	So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager	2006
Dr Morteza Pourfarzam	Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency	2005
Jose Osorio Orozco Dr Morteza Pourfarzam	Early diagnosis of neurometabolic diseases by tandem mass spectrometry. Acylcarnitine profile from cord blood	2004
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 deficiency	2004
Professor Zofia Chrzanowska-Lightowlers Dr Morteza Pourfarzam Professor Robert Taylor Emeritus Professor Doug Turnbull	A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency	2003
Dr Morteza Pourfarzam	Glutaryl-CoA Dehydrogenase Deficiency: Region-Specific Analysis of Organic Acids and Acylcarnitines in post mortem Brain Predicts Vulnerability of the Putamen	2003
Dr Andrew Morris Emeritus Professor Doug Turnbull Dr Morteza Pourfarzam	Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency	2003
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 muscle	2002
Professor Kim Bartlett Dr Morteza Pourfarzam	Defects of beta-oxidation including carnitine deficiency	2002
Professor Kim Bartlett Dr Morteza Pourfarzam	Defects of β-oxidation including carnitine deficiency	2002
Professor Tiina Tyni Dr Simon Eaton Dr Morteza Pourfarzam Dr Richard Andrews Emeritus Professor Doug Turnbull et al.	Mitochondrial fatty acid beta-oxidation in the retinal pigment epithelium	2002
Jose Osorio Orozco Dr Morteza Pourfarzam	Plasma free and total carnitine measured in children by tandem mass spectrometry	2002
Jose Osorio Orozco Dr Morteza Pourfarzam	Diagnostic error of mental retardation of neurometabolic origin confirmed by mass sequential spectrometry	2000
Dr Simon Eaton Professor Roderick Skinner Dr Juliet Hale Dr Morteza Pourfarzam Professor Kim Bartlett et al.	Plasma coenzyme Q₁₀ in children and adolescents undergoing doxorubicin therapy	2000
Dr Morteza Pourfarzam Professor Kim Bartlett	The mitochondrial trifunctional protein: centre of a beta-oxidation metabolon?	2000
Dr Morteza Pourfarzam Professor Kim Bartlett	Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency	1999
Dr Morteza Pourfarzam Professor Kim Bartlett	Control of mitochondrial beta-oxidation at the levels of [NAD+]/[NADH] and CoA acylation	1999
Dr Morteza Pourfarzam	Normal acylcarnitines in maternal urine during a pregnancy affected by glutaric aciduria type II	1999
Dr Simon Eaton Professor Kim Bartlett Dr Morteza Pourfarzam	Production and export of acylcarnitine esters by neonatal rat hepatocytes	1999
Professor Kim Bartlett Dr Morteza Pourfarzam	Tandem mass spectrometry - the potential	1999
Dr Morteza Pourfarzam	The molecular basis of late onset very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency	1999