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Suggested authors matching "AUTH:Olpin S" with an ORCID

simon olpin
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Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.
Schwantje M, Ebberink MS, Doolaard M, Ruiter JPN, Fuchs SA, Darin N, Hedberg-Oldfors C, Régal L, Donker Kaat L, Huidekoper HH, Olpin S, Cole D, Moat SJ, Visser G, Ferdinandusse S
J Inherit Metab Dis, 45(4):819-831, 05 May 2022
Cited by: 1 article | PMID: 35403730 | PMCID: PMC9542805
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Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia.
Habib A, Azize NAA, Rahman SA, Yakob Y, Suberamaniam V, Nazri MIBA, Abdullah Sani H, Ch'ng GS, Yin LH, Olpin S, Lock-Hock N
Clin Biochem, 98:48-53, 07 Oct 2021
Cited by: 5 articles | PMID: 34626609
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Biochemical assessment of patients following ketogenic diets for epilepsy: Current practice in the UK and Ireland.
Schoeler NE, Simpson Z, Whiteley VJ, Nguyen P, Meskell R, Lightfoot K, Martin-McGill KJ, Olpin S, Ivison F, Ketogenic Dietitians Research Network (KDRN)
Epilepsia Open, 5(1):73-79, 29 Nov 2019
Cited by: 3 articles | PMID: 32140645 | PMCID: PMC7049795
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Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.
Knerr I, Colombo R, Urquhart J, Morais A, Merinero B, Oyarzabal A, Pérez B, Jones SA, Perveen R, Preece MA, Rogers Y, Treacy EP, Mayne P, Zampino G, MacKinnon S, Wassmer E, Yue WW, Robinson I, Rodríguez-Pombo P, [...] Banka S
J Inherit Metab Dis, 42(5):809-817, 01 Aug 2019
Cited by: 12 articles | PMID: 31177572
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Response to Finsterer: CPT-II deficiency needs to be detected in army personnel.
Balasubramanian M, Jenkins TM, Kirk RJ, Nesbitt IM, Olpin SE, Hill M, Gillett GT
Mol Genet Metab Rep, 16:12, 08 Jun 2018
Cited by: 1 article | PMID: 29992091 | PMCID: PMC6035911
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Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II deficiency, common but under-recognised: Lessons to be learnt.
Balasubramanian M, Jenkins TM, Kirk RJ, Nesbitt IM, Olpin SE, Hill M, Gillett GT
Mol Genet Metab Rep, 15:69-70, 06 Mar 2018
Cited by: 8 articles | PMID: 29744303 | PMCID: PMC5938603
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Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.
Bala P, Ferdinandusse S, Olpin SE, Chetcuti P, Morris AA
JIMD Rep, 27:11-15, 25 Sep 2015
Cited by: 1 article | PMID: 26404458 | PMCID: PMC4864721
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The investigation and management of metabolic myopathies.
Olpin SE, Murphy E, Kirk RJ, Taylor RW, Quinlivan R
J Clin Pathol, 68(6):410-417, 15 Apr 2015
Cited by: 12 articles | PMID: 25878327
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Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.
Djouadi F, Habarou F, Le Bachelier C, Ferdinandusse S, Schlemmer D, Benoist JF, Boutron A, Andresen BS, Visser G, de Lonlay P, Olpin S, Fukao T, Yamaguchi S, Strauss AW, Wanders RJ, Bastin J
J Inherit Metab Dis, 39(1):47-58, 25 Jun 2015
Cited by: 17 articles | PMID: 26109258
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Transient 5-oxoprolinuria: unusually high anion gap acidosis in an infant.
Hulley SL, Perring J, Manning N, Olpin S, Yap S
Eur J Pediatr, 174(12):1685-1688, 01 Jul 2015
Cited by: 2 articles | PMID: 26122794
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A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.
Alston CL, Ceccatelli Berti C, Blakely EL, Oláhová M, He L, McMahon CJ, Olpin SE, Hargreaves IP, Nolli C, McFarland R, Goffrini P, O'Sullivan MJ, Taylor RW
Hum Genet, 134(8):869-879, 26 May 2015
Cited by: 34 articles | PMID: 26008905 | PMCID: PMC4495259
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Gene expression signatures in motor neurone disease fibroblasts reveal dysregulation of metabolism, hypoxia-response and RNA processing functions.
Raman R, Allen SP, Goodall EF, Kramer S, Ponger LL, Heath PR, Milo M, Hollinger HC, Walsh T, Highley JR, Olpin S, McDermott CJ, Shaw PJ, Kirby J
Neuropathol Appl Neurobiol, 41(2):201-226, 01 Feb 2015
Cited by: 51 articles | PMID: 24750211 | PMCID: PMC4329387
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The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency.
Olsen RK, Brøner S, Sabaratnam R, Doktor TK, Andersen HS, Bruun GH, Gahrn B, Stenbroen V, Olpin SE, Dobbie A, Gregersen N, Andresen BS
Hum Mutat, 35(1):86-95, 28 Oct 2013
Cited by: 21 articles | PMID: 24123825
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Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
Foley AR, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, Sugano K, Yonezawa A, Manzur AY, Burns J, Hughes I, McCullagh BG, Jungbluth H, Lim MJ, Lin JP, Megarbane A, Urtizberea JA, Shah AH, Antony J, [...] Houlden H
Brain, 137(pt 1):44-56, 19 Nov 2013
Cited by: 82 articles | PMID: 24253200 | PMCID: PMC3891447
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Niemann-Pick type C: a potentially treatable disorder?
Kheder A, Scott C, Olpin S, Hadjivassiliou M
Pract Neurol, 13(6):382-385, 01 Aug 2013
Cited by: 7 articles | PMID: 23906593
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Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability.
Olpin SE
J Inherit Metab Dis, 36(4):645-658, 15 May 2013
Cited by: 35 articles | PMID: 23674167 | PMCID: PMC7101856
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A vitamin B-12 supplement of 500 μg/d for eight weeks does not normalize urinary methylmalonic acid or other biomarkers of vitamin B-12 status in elderly people with moderately poor vitamin B-12 status.
Hill MH, Flatley JE, Barker ME, Garner CM, Manning NJ, Olpin SE, Moat SJ, Russell J, Powers HJ
J Nutr, 143(2):142-147, 12 Dec 2012
Cited by: 11 articles | PMID: 23236022
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MCAD deficiency in Denmark.
Andresen BS, Lund AM, Hougaard DM, Christensen E, Gahrn B, Christensen M, Bross P, Vested A, Simonsen H, Skogstrand K, Olpin S, Brandt NJ, Skovby F, Nørgaard-Pedersen B, Gregersen N
Mol Genet Metab, 106(2):175-188, 04 Apr 2012
Cited by: 23 articles | PMID: 22542437
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Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency.
Morris AA, Olpin SE, Bennett MJ, Santani A, Stahlschmidt J, McClean P
JIMD Rep, 7:27-29, 21 Mar 2012
Cited by: 3 articles | PMID: 23430491 | PMCID: PMC3575043
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Determinants of urinary methylmalonic acid concentration in an elderly population in the United Kingdom.
Flatley JE, Garner CM, Al-Turki M, Manning NJ, Olpin SE, Barker ME, Powers HJ
Am J Clin Nutr, 95(3):686-693, 01 Feb 2012
Cited by: 6 articles | PMID: 22301932
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Hypertrophic pyloric stenosis: predicting the resolution of biochemical abnormalities.
Wilkinson DJ, Chapman RA, Owen A, Olpin S, Marven SS
Pediatr Surg Int, 27(7):695-698, 11 Jan 2011
Cited by: 3 articles | PMID: 21221604
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Investigation and functional characterization of rare genetic variants in the adipose triglyceride lipase in a large healthy working population.
Coassin S, Schweiger M, Kloss-Brandstätter A, Lamina C, Haun M, Erhart G, Paulweber B, Rahman Y, Olpin S, Wolinski H, Cornaciu I, Zechner R, Zimmermann R, Kronenberg F
PLoS Genet, 6(12):e1001239, 09 Dec 2010
Cited by: 32 articles | PMID: 21170305 | PMCID: PMC3000363
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Dysregulation of hypoxia pathways in fumarate hydratase-deficient cells is independent of defective mitochondrial metabolism.
O'Flaherty L, Adam J, Heather LC, Zhdanov AV, Chung YL, Miranda MX, Croft J, Olpin S, Clarke K, Pugh CW, Griffiths J, Papkovsky D, Ashrafian H, Ratcliffe PJ, Pollard PJ
Hum Mol Genet, 19(19):3844-3851, 21 Jul 2010
Cited by: 69 articles | PMID: 20660115 | PMCID: PMC2935862
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Glutaric aciduria type 1 in South Africa-high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans.
van der Watt G, Owen EP, Berman P, Meldau S, Watermeyer N, Olpin SE, Manning NJ, Baumgarten I, Leisegang F, Henderson H
Mol Genet Metab, 101(2-3):178-182, 03 Aug 2010
Cited by: 23 articles | PMID: 20732827
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Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism.
Yang SY, He XY, Olpin SE, Sutton VR, McMenamin J, Philipp M, Denman RB, Malik M
Proc Natl Acad Sci U S A, 106(35):14820-14824, 17 Aug 2009
Cited by: 29 articles | PMID: 19706438 | PMCID: PMC2728107
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