Sharrard MJ - Search Results

1

Carnitine-acylcarnitine translocase deficiency--a mild phenotype.

Olpin SE, Bonham JR, Downing M, Manning NJ, Pollitt RJ, Sharrard MJ, Tanner MS. Olpin SE, et al. Among authors: sharrard mj. J Inherit Metab Dis. 1997 Sep;20(5):714-5. doi: 10.1023/a:1005343013873. J Inherit Metab Dis. 1997. PMID: 9323572 No abstract available.

2

The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial disease.

Bonham JR, Guthrie P, Downing M, Allen JC, Tanner MS, Sharrard M, Rittey C, Land JM, Fensom A, O'Neill D, Duley JA, Fairbanks LD. Bonham JR, et al. J Inherit Metab Dis. 1999 Apr;22(2):174-84. doi: 10.1023/a:1005406205548. J Inherit Metab Dis. 1999. PMID: 10234613

3

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. J Inherit Metab Dis. 2005;28(4):533-44. doi: 10.1007/s10545-005-0533-8. J Inherit Metab Dis. 2005. PMID: 15902556

4

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: sharrard mj. 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.

5

Treating rare inborn errors of metabolism.

Pollitt RJ, Sharrard MJ. Pollitt RJ, et al. Among authors: sharrard mj. Lancet. 2004 Dec 18-31;364(9452):2158-60. doi: 10.1016/S0140-6736(04)17606-X. Lancet. 2004. PMID: 15610786 No abstract available.

6

High frequency of missense mutations in glycogen storage disease type VI.

Beauchamp NJ, Taybert J, Champion MP, Layet V, Heinz-Erian P, Dalton A, Tanner MS, Pronicka E, Sharrard MJ. Beauchamp NJ, et al. Among authors: sharrard mj. J Inherit Metab Dis. 2007 Oct;30(5):722-34. doi: 10.1007/s10545-007-0499-9. Epub 2007 Aug 21. J Inherit Metab Dis. 2007. PMID: 17705025

7

Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway.

Hart CE, Race V, Achouri Y, Wiame E, Sharrard M, Olpin SE, Watkinson J, Bonham JR, Jaeken J, Matthijs G, Van Schaftingen E. Hart CE, et al. Am J Hum Genet. 2007 May;80(5):931-7. doi: 10.1086/517888. Epub 2007 Mar 30. Am J Hum Genet. 2007. PMID: 17436247 Free PMC article.

8

Riboflavin-responsive trimethylaminuria in a patient with homocystinuria on betaine therapy.

Manning NJ, Allen EK, Kirk RJ, Sharrard MJ, Smith EJ. Manning NJ, et al. Among authors: sharrard mj. JIMD Rep. 2012;5:71-5. doi: 10.1007/8904_2011_99. Epub 2011 Nov 20. JIMD Rep. 2012. PMID: 23430919 Free PMC article.

9

Genetic hemochromatosis in alpha1-antitrypsin-deficient liver disease.

Sharrard MJ, Durkie M, Tanner MS. Sharrard MJ, et al. Hepatology. 1997 Nov;26(5):1366. doi: 10.1002/hep.510260542. Hepatology. 1997. PMID: 9362386 No abstract available.

10

Gene polymorphisms and the use of the bonferroni correction factor: when and when not to apply?

Tanner MS, Sharrard MJ, Rigby AS. Tanner MS, et al. Among authors: sharrard mj. Arch Dis Child. 1997 Apr;76(4):386. doi: 10.1136/adc.76.4.385c. Arch Dis Child. 1997. PMID: 9166043 Free PMC article. No abstract available.

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