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Items: 1 to 50 of 180

1.

OSTα deficiency: A disorder with cholestasis, liver fibrosis and congenital diarrhea.

Gao E, Cheema H, Waheed N, Mushtaq I, Erden N, Nelson-Williams C, Jain D, Soroka CJ, Boyer JL, Khalil Y, Clayton PT, Mistry PK, Lifton RP, Vilarinho S.

Hepatology. 2019 Dec 21. doi: 10.1002/hep.31087. [Epub ahead of print]

PMID:
31863603
2.

Investigation of diagnostic performance of five urinary cholesterol metabolites for Niemann-Pick disease type C.

Maekawa M, Jinnoh I, Narita A, Iida T, Saigusa D, Iwahori A, Nittono H, Okuyama T, Eto Y, Ohno K, Clayton PT, Yamaguchi H, Mano N.

J Lipid Res. 2019 Dec;60(12):2074-2081. doi: 10.1194/jlr.M093971. Epub 2019 Oct 4.

PMID:
31586016
3.

Rapid, proteomic urine assay for monitoring progressive organ disease in Fabry disease.

Doykov ID, Heywood WE, Nikolaenko V, Śpiewak J, Hällqvist J, Clayton PT, Mills P, Warnock DG, Nowak A, Mills K.

J Med Genet. 2020 Jan;57(1):38-47. doi: 10.1136/jmedgenet-2019-106030. Epub 2019 Sep 13.

PMID:
31519711
4.

The effectiveness of correcting abnormal metabolic profiles.

Clayton PT.

J Inherit Metab Dis. 2020 Jan;43(1):2-13. doi: 10.1002/jimd.12139. Epub 2019 Jul 17.

5.

PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.

Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E, Efthymiou S, Pope S, Conte MR, Abis G, Liu YT, Tribollet E, Haridy NA, Botía JA, Ryten M, Nicolaou P, Minaidou A, Christodoulou K, Kernohan KD, Eaton A, Osmond M, Ito Y, Bourque P, Jepson JEC, Bello O, Bremner F, Cordivari C, Reilly MM, Foiani M, Heslegrave A, Zetterberg H, Heales SJR, Wood NW, Rothman JE, Boycott KM, Mills PB, Clayton PT, Houlden H; Care4Rare Canada Consortium and the SYNaPS Study Group.

Ann Neurol. 2019 Aug;86(2):225-240. doi: 10.1002/ana.25524. Epub 2019 Jul 1.

6.

Diagnostic performance evaluation of sulfate-conjugated cholesterol metabolites as urinary biomarkers of Niemann-Pick disease type C.

Maekawa M, Narita A, Jinnoh I, Iida T, Marquardt T, Mengel E, Eto Y, Clayton PT, Yamaguchi H, Mano N.

Clin Chim Acta. 2019 Jul;494:58-63. doi: 10.1016/j.cca.2019.03.1610. Epub 2019 Mar 12.

PMID:
30876856
7.

Disorders affecting vitamin B6 metabolism.

Wilson MP, Plecko B, Mills PB, Clayton PT.

J Inherit Metab Dis. 2019 Jul;42(4):629-646. doi: 10.1002/jimd.12060. Epub 2019 Mar 20. Review.

PMID:
30671974
8.

Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties.

Anderson R, Rust S, Ashworth J, Clayton-Smith J, Taylor RL, Clayton PT, Morris AAM.

JIMD Rep. 2019;44:79-84. doi: 10.1007/8904_2018_127. Epub 2018 Aug 11.

9.

An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy.

Wilson MP, Footitt EJ, Papandreou A, Uudelepp ML, Pressler R, Stevenson DC, Gabriel C, McSweeney M, Baggot M, Burke D, Stödberg T, Riney K, Schiff M, Heales SJR, Mills KA, Gissen P, Clayton PT, Mills PB.

Anal Chem. 2017 Sep 5;89(17):8892-8900. doi: 10.1021/acs.analchem.7b01358. Epub 2017 Aug 17.

10.

SLC39A14 Deficiency.

Tuschl K, Gregory A, Meyer E, Clayton PT, Hayflick SJ, Mills PB, Kurian MA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2017 May 25.

11.

Host-Microbe Co-metabolism Dictates Cancer Drug Efficacy in C. elegans.

Scott TA, Quintaneiro LM, Norvaisas P, Lui PP, Wilson MP, Leung KY, Herrera-Dominguez L, Sudiwala S, Pessia A, Clayton PT, Bryson K, Velagapudi V, Mills PB, Typas A, Greene NDE, Cabreiro F.

Cell. 2017 Apr 20;169(3):442-456.e18. doi: 10.1016/j.cell.2017.03.040.

12.

Inherited disorders of transition metal metabolism: an update.

Clayton PT.

J Inherit Metab Dis. 2017 Jul;40(4):519-529. doi: 10.1007/s10545-017-0030-x. Epub 2017 Mar 16. Review.

PMID:
28303424
13.

Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.

Reid ES, Williams H, Anderson G, Benatti M, Chong K, James C, Ocaka L; GOSgene, Hemingway C, Little D, Brown R, Parker A, Holden S, Footitt E, Rahman S, Gissen P, Mills PB, Clayton PT.

J Inherit Metab Dis. 2017 May;40(3):385-394. doi: 10.1007/s10545-017-0025-7. Epub 2017 Mar 2.

14.

Quality and stability of extemporaneous pyridoxal phosphate preparations used in the treatment of paediatric epilepsy.

Mohamed-Ahmed AH, Wilson MP, Albuera M, Chen T, Mills PB, Footitt EJ, Clayton PT, Tuleu C.

J Pharm Pharmacol. 2017 Apr;69(4):480-488. doi: 10.1111/jphp.12701. Epub 2017 Feb 21.

PMID:
28220480
15.

Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease.

Tuschl K, Clayton PT, Gospe SM Jr, Mills PB.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2012 Aug 30 [updated 2017 Feb 9].

16.

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.

Darin N, Reid E, Prunetti L, Samuelsson L, Husain RA, Wilson M, El Yacoubi B, Footitt E, Chong WK, Wilson LC, Prunty H, Pope S, Heales S, Lascelles K, Champion M, Wassmer E, Veggiotti P, de Crécy-Lagard V, Mills PB, Clayton PT.

Am J Hum Genet. 2016 Dec 1;99(6):1325-1337. doi: 10.1016/j.ajhg.2016.10.011.

17.

ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment.

Vilarinho S, Sari S, Mazzacuva F, Bilgüvar K, Esendagli-Yilmaz G, Jain D, Akyol G, Dalgiç B, Günel M, Clayton PT, Lifton RP.

Proc Natl Acad Sci U S A. 2016 Oct 4;113(40):11289-11293. Epub 2016 Sep 19.

18.

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.

Reid ES, Papandreou A, Drury S, Boustred C, Yue WW, Wedatilake Y, Beesley C, Jacques TS, Anderson G, Abulhoul L, Broomfield A, Cleary M, Grunewald S, Varadkar SM, Lench N, Rahman S, Gissen P, Clayton PT, Mills PB.

Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.

19.

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man.

Tuschl K, Clayton PT, Gospe SM Jr, Gulab S, Ibrahim S, Singhi P, Aulakh R, Ribeiro RT, Barsottini OG, Zaki MS, Del Rosario ML, Dyack S, Price V, Rideout A, Gordon K, Wevers RA, Chong WK, Mills PB.

Am J Hum Genet. 2016 Aug 4;99(2):521. doi: 10.1016/j.ajhg.2016.07.015. No abstract available.

20.

TRNT1 deficiency: clinical, biochemical and molecular genetic features.

Wedatilake Y, Niazi R, Fassone E, Powell CA, Pearce S, Plagnol V, Saldanha JW, Kleta R, Chong WK, Footitt E, Mills PB, Taanman JW, Minczuk M, Clayton PT, Rahman S.

Orphanet J Rare Dis. 2016 Jul 2;11(1):90. doi: 10.1186/s13023-016-0477-0.

21.

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.

Tuschl K, Meyer E, Valdivia LE, Zhao N, Dadswell C, Abdul-Sada A, Hung CY, Simpson MA, Chong WK, Jacques TS, Woltjer RL, Eaton S, Gregory A, Sanford L, Kara E, Houlden H, Cuno SM, Prokisch H, Valletta L, Tiranti V, Younis R, Maher ER, Spencer J, Straatman-Iwanowska A, Gissen P, Selim LA, Pintos-Morell G, Coroleu-Lletget W, Mohammad SS, Yoganathan S, Dale RC, Thomas M, Rihel J, Bodamer OA, Enns CA, Hayflick SJ, Clayton PT, Mills PB, Kurian MA, Wilson SW.

Nat Commun. 2016 May 27;7:11601. doi: 10.1038/ncomms11601.

22.

Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.

Mazzacuva F, Mills P, Mills K, Camuzeaux S, Gissen P, Nicoli ER, Wassif C, Te Vruchte D, Porter FD, Maekawa M, Mano N, Iida T, Platt F, Clayton PT.

FEBS Lett. 2016 Jun;590(11):1651-62. doi: 10.1002/1873-3468.12196. Epub 2016 May 27.

23.

Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation.

Heywood WE, Bliss E, Mills P, Yuzugulen J, Carreno G, Clayton PT, Muntoni F, Worthington VC, Torelli S, Sebire NJ, Mills K, Grunewald S.

Mol Genet Metab Rep. 2016 Apr 17;7:55-62. doi: 10.1016/j.ymgmr.2016.03.002. eCollection 2016 Jun.

24.

Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients.

Griffiths WJ, Abdel-Khalik J, Crick PJ, Ogundare M, Shackleton CH, Tuschl K, Kwok MK, Bigger BW, Morris AA, Honda A, Xu L, Porter NA, Björkhem I, Clayton PT, Wang Y.

J Steroid Biochem Mol Biol. 2017 May;169:77-87. doi: 10.1016/j.jsbmb.2016.03.018. Epub 2016 Mar 11.

25.

Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6.

Reid ES, Williams H, Stabej Ple Q, James C, Ocaka L, Bacchelli C, Footitt EJ, Boyd S, Cleary MA, Mills PB, Clayton PT.

JIMD Rep. 2016;27:79-84. doi: 10.1007/8904_2015_460. Epub 2015 Oct 8.

26.

Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.

Mefford HC, Zemel M, Geraghty E, Cook J, Clayton PT, Paul K, Plecko B, Mills PB, Nordli DR Jr, Gospe SM Jr.

Neurology. 2015 Sep 1;85(9):756-62. doi: 10.1212/WNL.0000000000001883. Epub 2015 Jul 29.

27.

Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine:glyoxylate aminotransferase causing primary hyperoxaluria type I.

Oppici E, Fargue S, Reid ES, Mills PB, Clayton PT, Danpure CJ, Cellini B.

Hum Mol Genet. 2015 Oct 1;24(19):5500-11. doi: 10.1093/hmg/ddv276. Epub 2015 Jul 21.

PMID:
26199318
28.

A preterm neonate with seizures unresponsive to conventional treatment.

Raimondi F, Mills P, Clayton PT, Del Giudice E.

BMJ Case Rep. 2015 May 14;2015. pii: bcr2015209743. doi: 10.1136/bcr-2015-209743.

29.

Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy.

Levtova A, Camuzeaux S, Laberge AM, Allard P, Brunel-Guitton C, Diadori P, Rossignol E, Hyland K, Clayton PT, Mills PB, Mitchell GA.

JIMD Rep. 2015;22:67-75. doi: 10.1007/8904_2015_413. Epub 2015 Mar 12.

30.

The Fabry disease-associated lipid Lyso-Gb3 enhances voltage-gated calcium currents in sensory neurons and causes pain.

Choi L, Vernon J, Kopach O, Minett MS, Mills K, Clayton PT, Meert T, Wood JN.

Neurosci Lett. 2015 May 6;594:163-8. doi: 10.1016/j.neulet.2015.01.084. Epub 2015 Feb 16.

31.

Quantitative charge-tags for sterol and oxysterol analysis.

Crick PJ, William Bentley T, Abdel-Khalik J, Matthews I, Clayton PT, Morris AA, Bigger BW, Zerbinati C, Tritapepe L, Iuliano L, Wang Y, Griffiths WJ.

Clin Chem. 2015 Feb;61(2):400-11. doi: 10.1373/clinchem.2014.231332. Epub 2014 Dec 15.

PMID:
25512642
32.

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease.

Broomfield A, Sweeney MG, Woodward CE, Fratter C, Morris AM, Leonard JV, Abulhoul L, Grunewald S, Clayton PT, Hanna MG, Poulton J, Rahman S.

J Inherit Metab Dis. 2015 May;38(3):445-57. doi: 10.1007/s10545-014-9778-4. Epub 2014 Oct 29.

33.

Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy.

Wedatilake Y, Plagnol V, Anderson G, Paine SM, Clayton PT, Jacques TS, Rahman S.

Neuropathol Appl Neurobiol. 2015 Apr;41(3):399-402. doi: 10.1111/nan.12190. No abstract available.

34.

Cholestenoic acids regulate motor neuron survival via liver X receptors.

Theofilopoulos S, Griffiths WJ, Crick PJ, Yang S, Meljon A, Ogundare M, Kitambi SS, Lockhart A, Tuschl K, Clayton PT, Morris AA, Martinez A, Reddy MA, Martinuzzi A, Bassi MT, Honda A, Mizuochi T, Kimura A, Nittono H, De Michele G, Carbone R, Criscuolo C, Yau JL, Seckl JR, Schüle R, Schöls L, Sailer AW, Kuhle J, Fraidakis MJ, Gustafsson JÅ, Steffensen KR, Björkhem I, Ernfors P, Sjövall J, Arenas E, Wang Y.

J Clin Invest. 2014 Nov;124(11):4829-42. doi: 10.1172/JCI68506. Epub 2014 Oct 1.

35.

Liver disease in infancy caused by oxysterol 7 α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid.

Dai D, Mills PB, Footitt E, Gissen P, McClean P, Stahlschmidt J, Coupry I, Lavie J, Mochel F, Goizet C, Mizuochi T, Kimura A, Nittono H, Schwarz K, Crick PJ, Wang Y, Griffiths WJ, Clayton PT.

J Inherit Metab Dis. 2014 Sep;37(5):851-61.

PMID:
24658845
36.

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.

Mills PB, Camuzeaux SS, Footitt EJ, Mills KA, Gissen P, Fisher L, Das KB, Varadkar SM, Zuberi S, McWilliam R, Stödberg T, Plecko B, Baumgartner MR, Maier O, Calvert S, Riney K, Wolf NI, Livingston JH, Bala P, Morel CF, Feillet F, Raimondi F, Del Giudice E, Chong WK, Pitt M, Clayton PT.

Brain. 2014 May;137(Pt 5):1350-60. doi: 10.1093/brain/awu051. Epub 2014 Mar 18.

37.

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.

Ferdinandusse S, Waterham HR, Heales SJ, Brown GK, Hargreaves IP, Taanman JW, Gunny R, Abulhoul L, Wanders RJ, Clayton PT, Leonard JV, Rahman S.

Orphanet J Rare Dis. 2013 Dec 4;8:188. doi: 10.1186/1750-1172-8-188.

38.

Manganese and the brain.

Tuschl K, Mills PB, Clayton PT.

Int Rev Neurobiol. 2013;110:277-312. doi: 10.1016/B978-0-12-410502-7.00013-2. Review.

PMID:
24209443
39.

A new method for the rapid diagnosis of protein N-linked congenital disorders of glycosylation.

Heywood WE, Mills P, Grunewald S, Worthington V, Jaeken J, Carreno G, Lemonde H, Clayton PT, Mills K.

J Proteome Res. 2013 Jul 5;12(7):3471-9. doi: 10.1021/pr400328g. Epub 2013 Jun 17.

PMID:
23742123
40.

Phenotypic variability in a dystonia family with mutations in the manganese transporter gene.

Delnooz CC, Wevers RA, Quadri M, Clayton PT, Mills PB, Tuschl K, Steenbergen EJ, Bonifati V, van de Warrenburg BP.

Mov Disord. 2013 May;28(5):685-6. doi: 10.1002/mds.25390. Epub 2013 Apr 16. No abstract available.

PMID:
23592301
41.

Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.

Flanagan SE, Xie W, Caswell R, Damhuis A, Vianey-Saban C, Akcay T, Darendeliler F, Bas F, Guven A, Siklar Z, Ocal G, Berberoglu M, Murphy N, O'Sullivan M, Green A, Clayton PE, Banerjee I, Clayton PT, Hussain K, Weedon MN, Ellard S.

Am J Hum Genet. 2013 Jan 10;92(1):131-6. doi: 10.1016/j.ajhg.2012.11.017. Epub 2012 Dec 27.

42.

Inborn errors of metabolism causing epilepsy.

Rahman S, Footitt EJ, Varadkar S, Clayton PT.

Dev Med Child Neurol. 2013 Jan;55(1):23-36. doi: 10.1111/j.1469-8749.2012.04406.x. Epub 2012 Sep 24. Review.

43.

Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder.

Stamelou M, Tuschl K, Chong WK, Burroughs AK, Mills PB, Bhatia KP, Clayton PT.

Mov Disord. 2012 Sep 1;27(10):1317-22. doi: 10.1002/mds.25138. Epub 2012 Aug 23.

44.

Analytical strategies for characterization of oxysterol lipidomes: liver X receptor ligands in plasma.

Griffiths WJ, Crick PJ, Wang Y, Ogundare M, Tuschl K, Morris AA, Bigger BW, Clayton PT, Wang Y.

Free Radic Biol Med. 2013 Jun;59:69-84. doi: 10.1016/j.freeradbiomed.2012.07.027. Epub 2012 Jul 27.

45.

Diagnosis in bile acid-CoA: amino acid N-acyltransferase deficiency.

Hadžić N, Bull LN, Clayton PT, Knisely AS.

World J Gastroenterol. 2012 Jul 7;18(25):3322-6. doi: 10.3748/wjg.v18.i25.3322.

46.

Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC-MS/MS method.

Footitt EJ, Clayton PT, Mills K, Heales SJ, Neergheen V, Oppenheim M, Mills PB.

J Inherit Metab Dis. 2013 Jan;36(1):139-45. doi: 10.1007/s10545-012-9493-y. Epub 2012 May 11.

PMID:
22576361
47.

Differential diagnosis in patients with suspected bile acid synthesis defects.

Haas D, Gan-Schreier H, Langhans CD, Rohrer T, Engelmann G, Heverin M, Russell DW, Clayton PT, Hoffmann GF, Okun JG.

World J Gastroenterol. 2012 Mar 14;18(10):1067-76. doi: 10.3748/wjg.v18.i10.1067.

48.

Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.

Mills PB, Footitt EJ, Ceyhan S, Waters PJ, Jakobs C, Clayton PT, Struys EA.

J Inherit Metab Dis. 2012 Nov;35(6):1031-6. doi: 10.1007/s10545-012-9466-1. Epub 2012 Mar 9.

PMID:
22403017
49.

Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.

Tuschl K, Clayton PT, Gospe SM Jr, Gulab S, Ibrahim S, Singhi P, Aulakh R, Ribeiro RT, Barsottini OG, Zaki MS, Del Rosario ML, Dyack S, Price V, Rideout A, Gordon K, Wevers RA, Chong WK, Mills PB.

Am J Hum Genet. 2012 Mar 9;90(3):457-66. doi: 10.1016/j.ajhg.2012.01.018. Epub 2012 Feb 16. Erratum in: Am J Hum Genet. 2016 Aug 4;99(2):521.

50.

Bile acid-CoA ligase deficiency--a new inborn error of bile acid metabolism.

Chong CP, Mills PB, McClean P, Gissen P, Bruce C, Stahlschmidt J, Knisely AS, Clayton PT.

J Inherit Metab Dis. 2012 May;35(3):521-30. doi: 10.1007/s10545-011-9416-3. Epub 2011 Nov 17.

PMID:
22089923

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