Rahman S - Search Results

1

Cerebral folate deficiency: Analytical tests and differential diagnosis.

Pope S, Artuch R, Heales S, Rahman S. Pope S, et al. Among authors: rahman s. J Inherit Metab Dis. 2019 Jul;42(4):655-672. doi: 10.1002/jimd.12092. Epub 2019 May 2. J Inherit Metab Dis. 2019. PMID: 30916789 Review.

2

Production and disposal of medium-chain fatty acids in children with medium-chain acyl-CoA dehydrogenase deficiency.

Heales SJ, Thompson GN, Massoud AF, Rahman S, Halliday D, Leonard JV. Heales SJ, et al. Among authors: rahman s. J Inherit Metab Dis. 1994;17(1):74-80. doi: 10.1007/BF00735398. J Inherit Metab Dis. 1994. PMID: 8051939

3

Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.

Hanna MG, Nelson IP, Rahman S, Lane RJ, Land J, Heales S, Cooper MJ, Schapira AH, Morgan-Hughes JA, Wood NW. Hanna MG, et al. Among authors: rahman s. Am J Hum Genet. 1998 Jul;63(1):29-36. doi: 10.1086/301910. Am J Hum Genet. 1998. PMID: 9634511 Free PMC article.

4

Neonatal presentation of coenzyme Q10 deficiency.

Rahman S, Hargreaves I, Clayton P, Heales S. Rahman S, et al. J Pediatr. 2001 Sep;139(3):456-8. doi: 10.1067/mpd.2001.117575. J Pediatr. 2001. PMID: 11562630

5

Diagnostic value of succinate ubiquinone reductase activity in the identification of patients with mitochondrial DNA depletion.

Hargreaves P, Rahman S, Guthrie P, Taanman JW, Leonard JV, Land JM, Heales SJ. Hargreaves P, et al. Among authors: rahman s. J Inherit Metab Dis. 2002 Feb;25(1):7-16. doi: 10.1023/a:1015104910239. J Inherit Metab Dis. 2002. PMID: 12004863

6

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: rahman s. J Inherit Metab Dis. 2003;26(6):543-57. doi: 10.1023/a:1025947930752. J Inherit Metab Dis. 2003. PMID: 14605500

7

Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II.

Pagnamenta AT, Hargreaves IP, Duncan AJ, Taanman JW, Heales SJ, Land JM, Bitner-Glindzicz M, Leonard JV, Rahman S. Pagnamenta AT, et al. Among authors: rahman s. Mol Genet Metab. 2006 Nov;89(3):214-21. doi: 10.1016/j.ymgme.2006.05.003. Epub 2006 Jun 23. Mol Genet Metab. 2006. PMID: 16798039

8

Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2.

Glamuzina E, Brown R, Hogarth K, Saunders D, Russell-Eggitt I, Pitt M, de Sousa C, Rahman S, Brown G, Grunewald S. Glamuzina E, et al. Among authors: rahman s. J Inherit Metab Dis. 2012 May;35(3):459-67. doi: 10.1007/s10545-011-9413-6. Epub 2011 Nov 16. J Inherit Metab Dis. 2012. PMID: 22086604

9

Mitochondrial disease and epilepsy.

Rahman S. Rahman S. Dev Med Child Neurol. 2012 May;54(5):397-406. doi: 10.1111/j.1469-8749.2011.04214.x. Epub 2012 Jan 28. Dev Med Child Neurol. 2012. PMID: 22283595 Free article. Review.

10

Human neuronal coenzyme Q10 deficiency results in global loss of mitochondrial respiratory chain activity, increased mitochondrial oxidative stress and reversal of ATP synthase activity: implications for pathogenesis and treatment.

Duberley KE, Abramov AY, Chalasani A, Heales SJ, Rahman S, Hargreaves IP. Duberley KE, et al. Among authors: rahman s. J Inherit Metab Dis. 2013 Jan;36(1):63-73. doi: 10.1007/s10545-012-9511-0. Epub 2012 Jul 6. J Inherit Metab Dis. 2013. PMID: 22767283

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