Pourfarzam M - Search Results

1

Acylcarnitine analysis in the investigation of myopathy.

Moore SJ, Haites NE, Broom I, White I, Coleman RJ, Pourfarzam M, Morris AA. Moore SJ, et al. Among authors: pourfarzam m. J Inherit Metab Dis. 1998 Jun;21(4):427-8. doi: 10.1023/a:1005319011531. J Inherit Metab Dis. 1998. PMID: 9700602 No abstract available.

2

Impaired ketogenesis in fructose-1,6-bisphosphatase deficiency: a pitfall in the investigation of hypoglycaemia.

Morris AA, Deshphande S, Ward-Platt MP, Whitfield AE, Aynsley-Green A, Leonard JV, Pourfarzam M, Bartlett K. Morris AA, et al. Among authors: pourfarzam m. J Inherit Metab Dis. 1995;18(1):28-32. doi: 10.1007/BF00711369. J Inherit Metab Dis. 1995. PMID: 7623439

3

N-acetylglutamate synthetase deficiency: favourable experience with carbamylglutamate.

Morris AA, Richmond SW, Oddie SJ, Pourfarzam M, Worthington V, Leonard JV. Morris AA, et al. Among authors: pourfarzam m. J Inherit Metab Dis. 1998 Dec;21(8):867-8. doi: 10.1023/a:1005478904186. J Inherit Metab Dis. 1998. PMID: 9870213 No abstract available.

4

Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.

Olpin SE, Afifi A, Clark S, Manning NJ, Bonham JR, Dalton A, Leonard JV, Land JM, Andresen BS, Morris AA, Muntoni F, Turnbull D, Pourfarzam M, Rahman S, Pollitt RJ. Olpin SE, et al. Among authors: pourfarzam m. J Inherit Metab Dis. 2003;26(6):543-57. doi: 10.1023/a:1025947930752. J Inherit Metab Dis. 2003. PMID: 14605500

5

Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency.

Olsen RK, Pourfarzam M, Morris AA, Dias RC, Knudsen I, Andresen BS, Gregersen N, Olpin SE. Olsen RK, et al. Among authors: pourfarzam m. J Inherit Metab Dis. 2004;27(5):671-8. doi: 10.1023/b:boli.0000042986.10291.e9. J Inherit Metab Dis. 2004. PMID: 15669683

6

Tandem mass spectrometry--the potential.

Bartlett K, Pourfarzam M. Bartlett K, et al. Among authors: pourfarzam m. J Inherit Metab Dis. 1999 Jun;22(4):568-71. doi: 10.1023/a:1005520726774. J Inherit Metab Dis. 1999. PMID: 10407788 Review.

7

Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency.

Pourfarzam M, Morris A, Appleton M, Craft A, Bartlett K. Pourfarzam M, et al. Lancet. 2001 Sep 29;358(9287):1063-4. doi: 10.1016/S0140-6736(01)06199-2. Lancet. 2001. PMID: 11589939

8

Normal acylcarnitines in maternal urine during a pregnancy affected by glutaric aciduria type II.

Manning NJ, Bonham JR, Downing M, Edwards RG, Olpin SE, Pollitt RJ, Pourfarzam M, Sharrard MJ, Tanner MS. Manning NJ, et al. Among authors: pourfarzam m. J Inherit Metab Dis. 1999 Feb;22(1):88-9. doi: 10.1023/a:1005467803802. J Inherit Metab Dis. 1999. PMID: 10070625 No abstract available.

9

Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency.

Olpin SE, Clark S, Andresen BS, Bischoff C, Olsen RK, Gregersen N, Chakrapani A, Downing M, Manning NJ, Sharrard M, Bonham JR, Muntoni F, Turnbull DN, Pourfarzam M. Olpin SE, et al. Among authors: pourfarzam m. J Inherit Metab Dis. 2005;28(4):533-44. doi: 10.1007/s10545-005-0533-8. J Inherit Metab Dis. 2005. PMID: 15902556

10

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

Olsen RK, Olpin SE, Andresen BS, Miedzybrodzka ZH, Pourfarzam M, Merinero B, Frerman FE, Beresford MW, Dean JC, Cornelius N, Andersen O, Oldfors A, Holme E, Gregersen N, Turnbull DM, Morris AA. Olsen RK, et al. Among authors: pourfarzam m. Brain. 2007 Aug;130(Pt 8):2045-54. doi: 10.1093/brain/awm135. Epub 2007 Jun 20. Brain. 2007. PMID: 17584774

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