R A Chalmers
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Explore the profile of R A Chalmers including associated specialties, affiliations and a list of published articles.
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Articles
172
Citations
1052
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Recent Articles
1.
Chalmers R, Bain M, Michelakakis H, Zschocke J, Iles R
J Inherit Metab Dis
. 2006 Apr;
29(1):162-72.
PMID: 16601883
Persistent trimethylaminuria in children is caused by autosomal recessively inherited impairment of hepatic trimethylamine (TMA) oxidation due to deficiency of flavin monooxygenase 3 (FMO3) secondary to mutations in the FMO3...
2.
Bain M, Till J, Jones M, Besley G, Lee P, Oliveira D, et al.
J Inherit Metab Dis
. 2006 Jan;
28(6):1179-80.
PMID: 16435224
A 36-year follow-up on the original patient described with methylmalonic aciduria has shown that she has methylmalonyl-CoA apomutase deficiency. The main clinical problem associated with her methylmalonic aciduria is progressive...
3.
Lee P, Harrison E, Jones M, Jones S, Leonard J, Chalmers R
J Inherit Metab Dis
. 2005 May;
28(2):141-52.
PMID: 15877203
Skeletal muscle function may be impaired in patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, but the value of L-carnitine in their long-term management is not clear. This study was designed...
4.
Kolker S, Hoffmann G, Schor D, Feyh P, Wagner L, Jeffrey I, et al.
Neuropediatrics
. 2003 Nov;
34(5):253-60.
PMID: 14598231
The neurometabolic disorder glutaryl-CoA dehydrogenase (GCDH) deficiency is biochemically characterised by an accumulation of the marker metabolites 3-hydroxyglutaric acid, glutaric acid, and glutarylcarnitine. If untreated, the disease is complicated by...
5.
Bax B, Bain M, Fairbanks L, Simmonds H, Webster A, Chalmers R
Adv Exp Med Biol
. 2002 Jan;
486:47-50.
PMID: 11783525
No abstract available.
6.
Hsu B, Iacobazzi V, Wang Z, Harvie H, Chalmers R, Saudubray J, et al.
Mol Genet Metab
. 2001 Oct;
74(1-2):248-55.
PMID: 11592821
This report describes three infants with genetic defects of carnitine-acylcarnitine translocase (CACT), an inner mitochondrial membrane carrier that is essential for long-chain fatty acid oxidation. Two of the patients were...
7.
Jones M, Chalmers R
Clin Chim Acta
. 2000 Aug;
300(1-2):203-12.
PMID: 10958876
Previous reports of patients with 3-hydroxy-3-methylglutaric aciduria have described the occurrence of di-trimethylsilyl (TMS) and tri-TMS derivatives of 3-hydroxy-3-methylglutaric acid on analysis using gas chromatography and mass spectrometry, leading to...
8.
MURPHY H, Dolphin C, Janmohamed A, Holmes H, Michelakakis H, Shephard E, et al.
Pharmacogenetics
. 2000 Jul;
10(5):439-51.
PMID: 10898113
We have previously shown that primary trimethylaminuria, or fish-odour syndrome, is caused by an inherited defect in the flavin-containing monooxygenase 3 (FMO3) catalysed N-oxidation of the dietary-derived malodorous amine, trimethylamine...
9.
Bax B, Bain M, Fairbanks L, Webster A, Chalmers R
Br J Haematol
. 2000 Jul;
109(3):549-54.
PMID: 10886203
Polyethylene glycol-conjugated adenosine deaminase (pegademase) is used for enzyme replacement therapy for patients with severe combined immunodeficiency caused by adenosine deaminase deficiency. The entrapment of pegademase within human energy-replete carrier...
10.
Chalmers R, Bain M, Costello I
Lancet
. 2000 Feb;
355(9198):148.
PMID: 10675197
No abstract available.