PubMed

Rheumatic manifestations of skin disease.

Clarke JT, Werth VP.

Curr Opin Rheumatol. 2010 Jan;22(1):78-84.PMID: 19851110 [PubMed - in process]Related articles

JAAD Grand Rounds quiz. Woman with hyperpigmented plaque and alopecia.

Regula CG, Clarke JT.

J Am Acad Dermatol. 2009 Jul;61(1):174-6. No abstract available. PMID: 19539870 [PubMed - indexed for MEDLINE]Related articles

Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS).

Jones SA, Almássy Z, Beck M, Burt K, Clarke JT, Giugliani R, Hendriksz C, Kroepfl T, Lavery L, Lin SP, Malm G, Ramaswami U, Tincheva R, Wraith JE; HOS Investigators.

J Inherit Metab Dis. 2009 Aug;32(4):534-43. Epub 2009 Jul 14.PMID: 19597960 [PubMed - indexed for MEDLINE]Related articles

Substrate reduction therapy in juvenile GM2 gangliosidosis.

Maegawa GH, Banwell BL, Blaser S, Sorge G, Toplak M, Ackerley C, Hawkins C, Hayes J, Clarke JT.

Mol Genet Metab. 2009 Sep-Oct;98(1-2):215-24. Epub 2009 Jun 12.PMID: 19595619 [PubMed - indexed for MEDLINE]Related articles

Experience with the treatment of argininosuccinic aciduria during pregnancy.

Reid L, Perreault E, Lafrance G, Clarke JT.

J Inherit Metab Dis. 2009 Jul 8. [Epub ahead of print]PMID: 19585269 [PubMed - as supplied by publisher]Related articles

Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease.

Maegawa GH, Tropak MB, Buttner JD, Rigat BA, Fuller M, Pandit D, Tang L, Kornhaber GJ, Hamuro Y, Clarke JT, Mahuran DJ.

J Biol Chem. 2009 Aug 28;284(35):23502-16. Epub 2009 Jul 3.PMID: 19578116 [PubMed - indexed for MEDLINE]Related articles

Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome Survey.

Mehta A, Clarke JT, Giugliani R, Elliott P, Linhart A, Beck M, Sunder-Plassmann G; FOS Investigators.

J Med Genet. 2009 Aug;46(8):548-52. Epub 2009 May 26.PMID: 19473999 [PubMed - indexed for MEDLINE]Related articles

Fabry disease urinary globotriaosylceramide/creatinine biomarker evaluation by liquid chromatography-tandem mass spectrometry in healthy infants from birth to 6 months.

Barr C, Clarke JT, Ntwari A, Drouin R, Auray-Blais C.

Mol Genet Metab. 2009 Aug;97(4):278-83. Epub 2009 May 3.PMID: 19464216 [PubMed - indexed for MEDLINE]Related articles

Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis.

Maegawa GH, van Giersbergen PL, Yang S, Banwell B, Morgan CP, Dingemanse J, Tifft CJ, Clarke JT.

Mol Genet Metab. 2009 Aug;97(4):284-91. Epub 2009 May 3.PMID: 19447653 [PubMed - indexed for MEDLINE]Related articles

Gb(3)/creatinine biomarkers for Fabry disease: issues to consider.

Auray-Blais C, Millington DS, Barr C, Young SP, Mills K, Clarke JT.

Mol Genet Metab. 2009 Jul;97(3):237. Epub 2009 Apr 18. No abstract available. PMID: 19428279 [PubMed - indexed for MEDLINE]Related articles

The use of agalsidase alfa enzyme replacement therapy in the treatment of Fabry disease.

Morel CF, Clarke JT.

Expert Opin Biol Ther. 2009 May;9(5):631-9.PMID: 19368525 [PubMed - in process]Related articles

Agalsidase alfa and kidney dysfunction in Fabry disease.

West M, Nicholls K, Mehta A, Clarke JT, Steiner R, Beck M, Barshop BA, Rhead W, Mensah R, Ries M, Schiffmann R.

J Am Soc Nephrol. 2009 May;20(5):1132-9. Epub 2009 Apr 8.PMID: 19357250 [PubMed - indexed for MEDLINE]Related articles

Punctate calcifications in lysosomal storage disorders.

Schwartz IV, Artigalás O, Ries M, Clarke JT, Giugliani R, Beck M.

Clin Dysmorphol. 2009 Jul;18(3):172-7. No abstract available. PMID: 19339876 [PubMed - indexed for MEDLINE]Related articles

Intracerebral periventricular pseudocysts in a fetus with mitochondrial depletion syndrome: an association or coincidence.

Rohrbach M, Chitayat D, Maegawa G, Shanske S, Davidzon G, Chong K, Clarke JT, Toi A, Tarnopolsky M, Robinson B, Blaser S.

Fetal Diagn Ther. 2009;25(2):177-82. Epub 2009 Mar 25.PMID: 19321960 [PubMed - indexed for MEDLINE]Related articles

Clinical heterogeneity in ethylmalonic encephalopathy.

Pigeon N, Campeau PM, Cyr D, Lemieux B, Clarke JT.

J Child Neurol. 2009 Aug;24(8):991-6. Epub 2009 Mar 16.PMID: 19289697 [PubMed - indexed for MEDLINE]Related articles

Cdc7 expression in melanomas, Spitz tumors and melanocytic nevi.

Clarke LE, Fountaine TJ, Hennessy J, Bruggeman RD, Clarke JT, Mauger DT, Helm KF.

J Cutan Pathol. 2009 Apr;36(4):433-8.PMID: 19278428 [PubMed - indexed for MEDLINE]Related articles

Surgical debridement of painful fingertip calcinosis cutis in CREST syndrome.

Saddic N, Miller JJ, Miller OF 3rd, Clarke JT.

Arch Dermatol. 2009 Feb;145(2):212-3. No abstract available. PMID: 19221282 [PubMed - indexed for MEDLINE]Related articles

Spectrum and management of hypertriglyceridemia among children in clinical practice.

Manlhiot C, Larsson P, Gurofsky RC, Smith RW, Fillingham C, Clarizia NA, Chahal N, Clarke JT, McCrindle BW.

Pediatrics. 2009 Feb;123(2):458-65.PMID: 19171610 [PubMed - indexed for MEDLINE]Related articles

Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease.

Auray-Blais C, Millington DS, Young SP, Clarke JT, Schiffmann R.

J Inherit Metab Dis. 2009 Apr;32(2):303-8. Epub 2009 Jan 26.PMID: 19169844 [PubMed - indexed for MEDLINE]Related articles

A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I.

Giugliani R, Rojas VM, Martins AM, Valadares ER, Clarke JT, Góes JE, Kakkis ED, Worden MA, Sidman M, Cox GF.

Mol Genet Metab. 2009 Jan;96(1):13-9. Epub 2008 Nov 26.PMID: 19038563 [PubMed - indexed for MEDLINE]Related articles

Disease rarity, carrier status, and gender: a triple disadvantage for women with Fabry disease.

Gibas AL, Klatt R, Johnson J, Clarke JT, Katz J.

J Genet Couns. 2008 Dec;17(6):528-37. Epub 2008 Oct 16.PMID: 18931895 [PubMed - indexed for MEDLINE]Related articles

Novel mutation of the perforin gene and maternal uniparental disomy 10 in a patient with familial hemophagocytic lymphohistiocytosis.

Al-Jasmi F, Abdelhaleem M, Stockley T, Lee KS, Clarke JT.

J Pediatr Hematol Oncol. 2008 Aug;30(8):621-4.PMID: 18799942 [PubMed - indexed for MEDLINE]Related articles

A "triple hit": basal cell carcinomas arising in an organ transplant recipient after venipunctures in irradiated skin.

Clarke JT, Fulchiero GJ Jr, Jones CR, Clarke L, Billingsley EM.

Dermatol Surg. 2008 Oct;34(10):1417-9. Epub 2008 Jul 22. No abstract available. PMID: 18657164 [PubMed - indexed for MEDLINE]Related articles

Cryptic splice site in the complementary DNA of glucocerebrosidase causes inefficient expression.

Bukovac SW, Bagshaw RD, Rigat BA, Callahan JW, Clarke JT, Mahuran DJ.

Anal Biochem. 2008 Oct 15;381(2):276-8. Epub 2008 Jun 21.PMID: 18619939 [PubMed - indexed for MEDLINE]Related articles

Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delay.

Maegawa GH, Poplawski NK, Andresen BS, Olpin SE, Nie G, Clarke JT, Teshima I.

Am J Med Genet A. 2008 Jun 15;146A(12):1581-6. Review.PMID: 18478588 [PubMed - indexed for MEDLINE]Related articles

Laboratory studies of alkali metal filter deposition, ultraviolet transmission, and visible blocking.

Clarke JT, Skinner WR, Vincent MB, Irgang T, Suratkal V, Grassl H, Trauger JT.

Appl Opt. 1999 Mar 20;38(9):1803-13.PMID: 18305811 [PubMed - in process]Related articles

Treatment of lysosomal storage disorders : progress with enzyme replacement therapy.

Rohrbach M, Clarke JT.

Drugs. 2007;67(18):2697-716. Review.PMID: 18062719 [PubMed - indexed for MEDLINE]Related articles

Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease.

Auray-Blais C, Cyr D, Ntwari A, West ML, Cox-Brinkman J, Bichet DG, Germain DP, Laframboise R, Melançon SB, Stockley T, Clarke JT, Drouin R.

Mol Genet Metab. 2008 Mar;93(3):331-40. Epub 2007 Nov 26.PMID: 18023222 [PubMed - indexed for MEDLINE]Related articles

Unsuccessful treatment attempt: cord blood stem cell transplantation in a patient with Niemann-Pick disease type A.

Morel CF, Gassas A, Doyle J, Clarke JT.

J Inherit Metab Dis. 2007 Nov;30(6):987. Epub 2007 Oct 25.PMID: 17960492 [PubMed - indexed for MEDLINE]Related articles

Plaque-like myofibroblastic tumor of infancy.

Clarke JT, Clarke LE, Miller C, Helm KF, Zaenglein AL.

Pediatr Dermatol. 2007 Sep-Oct;24(5):E83-7.PMID: 17958789 [PubMed - indexed for MEDLINE]Related articles

Acquired kinking of the hair caused by acitretin.

Clarke JT, Price H, Clarke S, George R, Miller JJ.

J Drugs Dermatol. 2007 Sep;6(9):937-8.PMID: 17941367 [PubMed - indexed for MEDLINE]Related articles

Jupiter's nightside airglow and aurora.

Gladstone GR, Stern SA, Slater DC, Versteeg M, Davis MW, Retherford KD, Young LA, Steffl AJ, Throop H, Parker JW, Weaver HA, Cheng AF, Orton GS, Clarke JT, Nichols JD.

Science. 2007 Oct 12;318(5848):229-31.PMID: 17932286 [PubMed - indexed for MEDLINE]Related articlesFree article

Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.

McCready ME, Carson NL, Chakraborty P, Clarke JT, Callahan JW, Skomorowski MA, Chan AK, Bamforth F, Casey R, Rupar CA, Geraghty MT.

Mol Genet Metab. 2007 Dec;92(4):325-35. Epub 2007 Aug 27.PMID: 17723315 [PubMed - indexed for MEDLINE]Related articles

The pharmacology of multiple regimens of agalsidase alfa enzyme replacement therapy for Fabry disease.

Clarke JT, West ML, Bultas J, Schiffmann R.

Genet Med. 2007 Aug;9(8):504-9.PMID: 17700388 [PubMed - indexed for MEDLINE]Related articles

Enzyme replacement in Fabry disease: pharmacokinetics and pharmacodynamics of agalsidase alpha in children and adolescents.

Ries M, Clarke JT, Whybra C, Mehta A, Loveday KS, Brady RO, Beck M, Schiffmann R.

J Clin Pharmacol. 2007 Oct;47(10):1222-30. Epub 2007 Aug 13.PMID: 17698592 [PubMed - indexed for MEDLINE]Related articles

Left ventricular aneurysm in a patient with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): clinical and pathological correlation.

Oudit GY, Butany J, Williams WG, Siu SC, Clarke JT, Iwanochko RM.

Cardiovasc Pathol. 2007 Jul-Aug;16(4):237-40. Epub 2007 Jan 16.PMID: 17637432 [PubMed - indexed for MEDLINE]Related articles

Narrative review: Fabry disease.

Clarke JT.

Ann Intern Med. 2007 Mar 20;146(6):425-33. Review.PMID: 17371887 [PubMed - indexed for MEDLINE]Related articlesFree article

Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA.

Castagna AE, Addis J, McInnes RR, Clarke JT, Ashby P, Blaser S, Robinson BH.

Am J Med Genet A. 2007 Apr 15;143A(8):808-16.PMID: 17352390 [PubMed - indexed for MEDLINE]Related articles

The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I.

Pastores GM, Arn P, Beck M, Clarke JT, Guffon N, Kaplan P, Muenzer J, Norato DY, Shapiro E, Thomas J, Viskochil D, Wraith JE.

Mol Genet Metab. 2007 May;91(1):37-47. Epub 2007 Mar 2.PMID: 17336562 [PubMed - indexed for MEDLINE]Related articles

Advancing patient safety in 2007: what can we do to help?

Bakuzonis CW, Bogner MS, Clarke JT, Cooper J, Fennigkoh L, Hyman WA, Kusinitz A, Scales G.

Biomed Instrum Technol. 2007 Jan-Feb;41(1):68-70. No abstract available. PMID: 17330443 [PubMed - indexed for MEDLINE]Related articles

Neurovascular instability syndrome: a unifying term to describe the coexistence of temperature-related vascular disorders in affected patients.

George R, Fulchiero GJ Jr, Marks JG Jr, Clarke JT.

Arch Dermatol. 2007 Feb;143(2):274-5. No abstract available. PMID: 17310018 [PubMed - indexed for MEDLINE]Related articles

Images in cardiovascular medicine. Left ventricular aneurysm associated with mucopolysaccharidosis type VI syndrome (Maroteaux-Lamy syndrome).

Oudit GY, Butany J, Williams WG, Clarke JT, Iwanochko RM.

Circulation. 2007 Feb 6;115(5):e60-2. No abstract available. PMID: 17283270 [PubMed - indexed for MEDLINE]Related articlesFree article

Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.

Maegawa GH, Tropak M, Buttner J, Stockley T, Kok F, Clarke JT, Mahuran DJ.

J Biol Chem. 2007 Mar 23;282(12):9150-61. Epub 2007 Jan 21.PMID: 17237499 [PubMed - indexed for MEDLINE]Related articlesFree article

The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.

Maegawa GH, Stockley T, Tropak M, Banwell B, Blaser S, Kok F, Giugliani R, Mahuran D, Clarke JT.

Pediatrics. 2006 Nov;118(5):e1550-62. Epub 2006 Oct 2. Review. Erratum in: Pediatrics. 2007 Oct;120(4):936. PMID: 17015493 [PubMed - indexed for MEDLINE]Related articlesFree article

A survey of the pain experienced by males and females with Fabry disease.

Gibas AL, Klatt R, Johnson J, Clarke JT, Katz J.

Pain Res Manag. 2006 Autumn;11(3):185-92.PMID: 16960635 [PubMed - indexed for MEDLINE]Related articlesFree article

Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease.

Ries M, Clarke JT, Whybra C, Timmons M, Robinson C, Schlaggar BL, Pastores G, Lien YH, Kampmann C, Brady RO, Beck M, Schiffmann R.

Pediatrics. 2006 Sep;118(3):924-32.PMID: 16950982 [PubMed - indexed for MEDLINE]Related articlesFree article

Success in the dermatology resident match in 2003: perceptions and importance of home institutions and away rotations.

Clarke JT, Miller JJ, Sceppa J, Goldsmith LA, Long E.

Arch Dermatol. 2006 Jul;142(7):930-2. No abstract available. PMID: 16847216 [PubMed - indexed for MEDLINE]Related articles

Mind the gap.

Clarke JT, Marks JG, Miller JJ.

Arch Dermatol. 2006 Jul;142(7):929-30. No abstract available. PMID: 16847215 [PubMed - indexed for MEDLINE]Related articles

Ornithine transcarbamoylase deficiency presenting with acute liver failure.

Mustafa A, Clarke JT.

J Inherit Metab Dis. 2006 Aug;29(4):586. Epub 2006 Jun 26.PMID: 16802108 [PubMed - indexed for MEDLINE]Related articles

Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity.

Cameron JM, Levandovskiy V, Mackay N, Raiman J, Renaud DL, Clarke JT, Feigenbaum A, Elpeleg O, Robinson BH.

Am J Med Genet A. 2006 Jul 15;140(14):1542-52.PMID: 16770810 [PubMed - indexed for MEDLINE]Related articles