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Items: 1 to 50 of 68

1.

Author response: Increased resting cerebral blood flow in adult Fabry disease: MRI arterial spin labeling study.

Werring DJ, Merwick A, Davagnanam I, Phyu P, Bolsover F, Jichi F, Wheeler-Kingshott C, Golay X, Hughes D, Cipolotti L, Murphy E, Lachmann RH.

Neurology. 2018 Dec 4;91(23):1072. doi: 10.1212/WNL.0000000000006621. No abstract available.

PMID:
30510023
2.

A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Trial Evaluating the Efficacy of Burosumab, an Anti-FGF23 Antibody, in Adults With X-Linked Hypophosphatemia: Week 24 Primary Analysis.

Insogna KL, Briot K, Imel EA, Kamenický P, Ruppe MD, Portale AA, Weber T, Pitukcheewanont P, Cheong HI, Jan de Beur S, Imanishi Y, Ito N, Lachmann RH, Tanaka H, Perwad F, Zhang L, Chen CY, Theodore-Oklota C, Mealiffe M, San Martin J, Carpenter TO; AXLES 1 Investigators.

J Bone Miner Res. 2018 Aug;33(8):1383-1393. doi: 10.1002/jbmr.3475. Epub 2018 Jun 26.

PMID:
29947083
3.

Proposed Stages of Myocardial Phenotype Development in Fabry Disease.

Nordin S, Kozor R, Medina-Menacho K, Abdel-Gadir A, Baig S, Sado DM, Lobascio I, Murphy E, Lachmann RH, Mehta A, Edwards NC, Ramaswami U, Steeds RP, Hughes D, Moon JC.

JACC Cardiovasc Imaging. 2018 May 16. pii: S1936-878X(18)30307-3. doi: 10.1016/j.jcmg.2018.03.020. [Epub ahead of print]

PMID:
29778854
4.

Increased resting cerebral blood flow in adult Fabry disease: MRI arterial spin labeling study.

Phyu P, Merwick A, Davagnanam I, Bolsover F, Jichi F, Wheeler-Kingshott C, Golay X, Hughes D, Cipolotti L, Murphy E, Lachmann RH, Werring DJ.

Neurology. 2018 Apr 17;90(16):e1379-e1385. doi: 10.1212/WNL.0000000000005330. Epub 2018 Mar 21.

PMID:
29661900
5.

Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations.

Chesher D, Oddy M, Darbar U, Sayal P, Casey A, Ryan A, Sechi A, Simister C, Waters A, Wedatilake Y, Lachmann RH, Murphy E.

J Inherit Metab Dis. 2018 Sep;41(5):865-876. doi: 10.1007/s10545-018-0147-6. Epub 2018 Feb 19.

6.

GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2).

Desikan M, Scalco RS, Manole A, Gardiner AR, Schapira AH, Lachmann RH, Houlden H, Holton JL, Phadke R, Quinlivan R.

Neuromuscul Disord. 2018 Apr;28(4):346-349. doi: 10.1016/j.nmd.2018.01.002. Epub 2018 Jan 10.

PMID:
29422440
7.

Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months.

Wasserstein MP, Diaz GA, Lachmann RH, Jouvin MH, Nandy I, Ji AJ, Puga AC.

J Inherit Metab Dis. 2018 Sep;41(5):829-838. doi: 10.1007/s10545-017-0123-6. Epub 2018 Jan 5.

8.

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience.

van der Ploeg AT, Kruijshaar ME, Toscano A, Laforêt P, Angelini C, Lachmann RH, Pascual Pascual SI, Roberts M, Rösler K, Stulnig T, van Doorn PA, Van den Bergh PYK, Vissing J, Schoser B; European Pompe Consortium.

Eur J Neurol. 2017 Jun;24(6):768-e31. doi: 10.1111/ene.13285. Epub 2017 May 6. Review.

PMID:
28477382
9.

Childhood Pompe disease: clinical spectrum and genotype in 31 patients.

van Capelle CI, van der Meijden JC, van den Hout JM, Jaeken J, Baethmann M, Voit T, Kroos MA, Derks TG, Rubio-Gozalbo ME, Willemsen MA, Lachmann RH, Mengel E, Michelakakis H, de Jongste JC, Reuser AJ, van der Ploeg AT.

Orphanet J Rare Dis. 2016 May 18;11(1):65. doi: 10.1186/s13023-016-0442-y.

10.

Homocysteine and methylmalonate: when should I measure them and what do they mean?

Lachmann RH, Briddon A.

Pract Neurol. 2016 Aug;16(4):328-33. doi: 10.1136/practneurol-2015-001320. Epub 2016 Mar 23. No abstract available.

PMID:
27009309
11.

Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease.

Schwerd T, Pandey S, Yang HT, Bagola K, Jameson E, Jung J, Lachmann RH, Shah N, Patel SY, Booth C, Runz H, Düker G, Bettels R, Rohrbach M, Kugathasan S, Chapel H, Keshav S, Elkadri A, Platt N, Muise AM, Koletzko S, Xavier RJ, Marquardt T, Powrie F, Wraith JE, Gyrd-Hansen M, Platt FM, Uhlig HH.

Gut. 2017 Jun;66(6):1060-1073. doi: 10.1136/gutjnl-2015-310382. Epub 2016 Mar 7.

12.

Urinary excretion and metabolism of miglustat and valproate in patients with Niemann-Pick type C1 disease: One- and two-dimensional solution-state (1)H NMR studies.

Probert F, Ruiz-Rodado V, Zhang X, te Vruchte D, Claridge TD, Edgar M, Tocchio AZ, Lachmann RH, Platt FM, Grootveld M.

J Pharm Biomed Anal. 2016 Jan 5;117:276-88. doi: 10.1016/j.jpba.2015.08.011. Epub 2015 Aug 13.

PMID:
26397207
13.

Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.

Germain DP, Charrow J, Desnick RJ, Guffon N, Kempf J, Lachmann RH, Lemay R, Linthorst GE, Packman S, Scott CR, Waldek S, Warnock DG, Weinreb NJ, Wilcox WR.

J Med Genet. 2015 May;52(5):353-8. doi: 10.1136/jmedgenet-2014-102797. Epub 2015 Mar 20.

14.

Bladder and Bowel Dysfunction Is Common in Both Men and Women with Mutation of the ABCD1 Gene for X-Linked Adrenoleukodystrophy.

Hofereiter J, Smith MD, Seth J, Tudor KI, Fox Z, Emmanuel A, Murphy E, Lachmann RH, Panicker J.

JIMD Rep. 2015;22:77-83. doi: 10.1007/8904_2015_414. Epub 2015 Mar 13.

15.

Reproducibility of native myocardial T1 mapping in the assessment of Fabry disease and its role in early detection of cardiac involvement by cardiovascular magnetic resonance.

Pica S, Sado DM, Maestrini V, Fontana M, White SK, Treibel T, Captur G, Anderson S, Piechnik SK, Robson MD, Lachmann RH, Murphy E, Mehta A, Hughes D, Kellman P, Elliott PM, Herrey AS, Moon JC.

J Cardiovasc Magn Reson. 2014 Dec 5;16:99. doi: 10.1186/s12968-014-0099-4.

16.

Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up.

van der Tol L, Cassiman D, Houge G, Janssen MC, Lachmann RH, Linthorst GE, Ramaswami U, Sommer C, Tøndel C, West ML, Weidemann F, Wijburg FA, Svarstad E, Hollak CE, Biegstraaten M.

JIMD Rep. 2014;17:83-90. doi: 10.1007/8904_2014_342. Epub 2014 Sep 16.

17.

Chronic kidney disease and an uncertain diagnosis of Fabry disease: approach to a correct diagnosis.

van der Tol L, Svarstad E, Ortiz A, Tøndel C, Oliveira JP, Vogt L, Waldek S, Hughes DA, Lachmann RH, Terryn W, Hollak CE, Florquin S, van den Bergh Weerman MA, Wanner C, West ML, Biegstraaten M, Linthorst GE.

Mol Genet Metab. 2015 Feb;114(2):242-7. doi: 10.1016/j.ymgme.2014.08.007. Epub 2014 Aug 20.

PMID:
25187469
18.

Effectiveness of enzyme replacement therapy in adults with late-onset Pompe disease: results from the NCS-LSD cohort study.

Anderson LJ, Henley W, Wyatt KM, Nikolaou V, Waldek S, Hughes DA, Lachmann RH, Logan S.

J Inherit Metab Dis. 2014 Nov;37(6):945-52. doi: 10.1007/s10545-014-9728-1. Epub 2014 Jun 7.

PMID:
24906254
19.

Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker.

te Vruchte D, Speak AO, Wallom KL, Al Eisa N, Smith DA, Hendriksz CJ, Simmons L, Lachmann RH, Cousins A, Hartung R, Mengel E, Runz H, Beck M, Amraoui Y, Imrie J, Jacklin E, Riddick K, Yanjanin NM, Wassif CA, Rolfs A, Rimmele F, Wright N, Taylor C, Ramaswami U, Cox TM, Hastings C, Jiang X, Sidhu R, Ory DS, Arias B, Jeyakumar M, Sillence DJ, Wraith JE, Porter FD, Cortina-Borja M, Platt FM.

J Clin Invest. 2014 Mar;124(3):1320-8.

20.

A practical approach to diagnosing adult onset leukodystrophies.

Ahmed RM, Murphy E, Davagnanam I, Parton M, Schott JM, Mummery CJ, Rohrer JD, Lachmann RH, Houlden H, Fox NC, Chataway J.

J Neurol Neurosurg Psychiatry. 2014 Jul;85(7):770-81. doi: 10.1136/jnnp-2013-305888. Epub 2013 Dec 19. No abstract available.

PMID:
24357685
21.

Cognitive dysfunction and depression in Fabry disease: a systematic review.

Bolsover FE, Murphy E, Cipolotti L, Werring DJ, Lachmann RH.

J Inherit Metab Dis. 2014 Mar;37(2):177-87. doi: 10.1007/s10545-013-9643-x. Epub 2013 Aug 16. Review.

PMID:
23949010
22.

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders.

Rüegger CM, Lindner M, Ballhausen D, Baumgartner MR, Beblo S, Das A, Gautschi M, Glahn EM, Grünert SC, Hennermann J, Hochuli M, Huemer M, Karall D, Kölker S, Lachmann RH, Lotz-Havla A, Möslinger D, Nuoffer JM, Plecko B, Rutsch F, Santer R, Spiekerkoetter U, Staufner C, Stricker T, Wijburg FA, Williams M, Burgard P, Häberle J.

J Inherit Metab Dis. 2014 Jan;37(1):21-30. doi: 10.1007/s10545-013-9624-0. Epub 2013 Jun 19.

23.

Identification and assessment of Anderson-Fabry disease by cardiovascular magnetic resonance noncontrast myocardial T1 mapping.

Sado DM, White SK, Piechnik SK, Banypersad SM, Treibel T, Captur G, Fontana M, Maestrini V, Flett AS, Robson MD, Lachmann RH, Murphy E, Mehta A, Hughes D, Neubauer S, Elliott PM, Moon JC.

Circ Cardiovasc Imaging. 2013 May 1;6(3):392-8. doi: 10.1161/CIRCIMAGING.112.000070. Epub 2013 Apr 5.

PMID:
23564562
24.

The identification of new biomarkers for identifying and monitoring kidney disease and their translation into a rapid mass spectrometry-based test: evidence of presymptomatic kidney disease in pediatric Fabry and type-I diabetic patients.

Manwaring V, Heywood WE, Clayton R, Lachmann RH, Keutzer J, Hindmarsh P, Winchester B, Heales S, Mills K.

J Proteome Res. 2013 May 3;12(5):2013-21. doi: 10.1021/pr301200e. Epub 2013 Apr 2.

PMID:
23464927
25.

Movement disorders in adult patients with classical galactosemia.

Rubio-Agusti I, Carecchio M, Bhatia KP, Kojovic M, Parees I, Chandrashekar HS, Footitt EJ, Burke D, Edwards MJ, Lachmann RH, Murphy E.

Mov Disord. 2013 Jun;28(6):804-10. doi: 10.1002/mds.25348. Epub 2013 Feb 11.

PMID:
23400815
26.

Atypical parkinsonism and cerebrotendinous xanthomatosis: report of a family with corticobasal syndrome and a literature review.

Rubio-Agusti I, Kojovic M, Edwards MJ, Murphy E, Chandrashekar HS, Lachmann RH, Bhatia KP.

Mov Disord. 2012 Dec;27(14):1769-74. doi: 10.1002/mds.25229. Epub 2012 Nov 2. Review.

PMID:
23124517
27.

Role of serum N-terminal pro-brain natriuretic peptide measurement in diagnosis of cardiac involvement in patients with anderson-fabry disease.

Coats CJ, Parisi V, Ramos M, Janagarajan K, O'Mahony C, Dawnay A, Lachmann RH, Murphy E, Mehta A, Hughes D, Elliott PM.

Am J Cardiol. 2013 Jan 1;111(1):111-7. doi: 10.1016/j.amjcard.2012.08.055. Epub 2012 Oct 4.

PMID:
23040658
28.

Cardiovascular magnetic resonance measurement of myocardial extracellular volume in health and disease.

Sado DM, Flett AS, Banypersad SM, White SK, Maestrini V, Quarta G, Lachmann RH, Murphy E, Mehta A, Hughes DA, McKenna WJ, Taylor AM, Hausenloy DJ, Hawkins PN, Elliott PM, Moon JC.

Heart. 2012 Oct;98(19):1436-41. doi: 10.1136/heartjnl-2012-302346. Epub 2012 Aug 30.

PMID:
22936681
29.

Invariant natural killer T cells are not affected by lysosomal storage in patients with Niemann-Pick disease type C.

Speak AO, Platt N, Salio M, te Vruchte D, Smith DA, Shepherd D, Veerapen N, Besra GS, Yanjanin NM, Simmons L, Imrie J, Wraith JE, Lachmann RH, Hartung R, Runz H, Mengel E, Beck M, Hendriksz CJ, Porter FD, Cerundolo V, Platt FM.

Eur J Immunol. 2012 Jul;42(7):1886-92. doi: 10.1002/eji.201141821. Epub 2012 Jun 14.

30.

Costs and outcomes over 36 years of patients with phenylketonuria who do and do not remain on a phenylalanine-restricted diet.

Guest JF, Bai JJ, Taylor RR, Sladkevicius E, Lee PJ, Lachmann RH.

J Intellect Disabil Res. 2013 Jun;57(6):567-79. doi: 10.1111/j.1365-2788.2012.01568.x. Epub 2012 May 8.

PMID:
22563770
31.

Pregnancy and its management in women with GSD type III - a single centre experience.

Ramachandran R, Wedatilake Y, Coats C, Walker F, Elliott P, Lee PJ, Lachmann RH, Murphy E.

J Inherit Metab Dis. 2012 Mar;35(2):245-51. doi: 10.1007/s10545-011-9384-7. Epub 2011 Sep 7.

PMID:
21947574
32.

Enzyme replacement therapy for lysosomal storage diseases.

Lachmann RH.

Curr Opin Pediatr. 2011 Dec;23(6):588-93. doi: 10.1097/MOP.0b013e32834c20d9. Review.

PMID:
21946346
33.

A series of pregnancies in women with inherited metabolic disease.

Langendonk JG, Roos JC, Angus L, Williams M, Karstens FP, de Klerk JB, Maritz C, Ben-Omran T, Williamson C, Lachmann RH, Murphy E.

J Inherit Metab Dis. 2012 May;35(3):419-24. doi: 10.1007/s10545-011-9389-2. Epub 2011 Sep 15.

PMID:
21918856
34.

Latency vs saccadic parameters in lysosomal trials.

Roos JC, Lachmann RH, Carpenter RH, Cox TM.

Ophthalmology. 2011 Apr;118(4):794-794.e1. doi: 10.1016/j.ophtha.2010.10.022. No abstract available.

PMID:
21459233
35.

Dietary treatment of phenylketonuria: the effect of phenylalanine on reaction time.

Dawson C, Murphy E, Maritz C, Chan H, Ellerton C, Carpenter RH, Lachmann RH.

J Inherit Metab Dis. 2011 Apr;34(2):449-54. doi: 10.1007/s10545-010-9276-2. Epub 2011 Feb 3.

PMID:
21290182
36.

Dietary modifications in patients receiving miglustat.

Champion H, Ramaswami U, Imrie J, Lachmann RH, Gallagher J, Cox TM, Wraith JE.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S379-83. doi: 10.1007/s10545-010-9193-4. Epub 2010 Sep 16.

PMID:
20844964
37.

Mipomersen, an apolipoprotein B synthesis inhibitor, for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia: a randomised, double-blind, placebo-controlled trial.

Raal FJ, Santos RD, Blom DJ, Marais AD, Charng MJ, Cromwell WC, Lachmann RH, Gaudet D, Tan JL, Chasan-Taber S, Tribble DL, Flaim JD, Crooke ST.

Lancet. 2010 Mar 20;375(9719):998-1006. doi: 10.1016/S0140-6736(10)60284-X.

PMID:
20227758
38.

Posterior circulation strokes without systemic involvement as the presenting feature of Fabry disease.

Gregoire SM, Brown MM, Collas DM, Jacob P, Lachmann RH, Werring DJ.

J Neurol Neurosurg Psychiatry. 2009 Dec;80(12):1414-6. doi: 10.1136/jnnp.2008.158790. No abstract available.

PMID:
19917829
39.

Long-term needs of adult patients with organic acidaemias: outcome and prognostic factors.

Martín-Hernández E, Lee PJ, Micciche A, Grunewald S, Lachmann RH.

J Inherit Metab Dis. 2009 Aug;32(4):523-33. doi: 10.1007/s10545-009-1191-12. Epub 2009 Jul 23.

PMID:
19629744
40.

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.

Neumann J, Bras J, Deas E, O'Sullivan SS, Parkkinen L, Lachmann RH, Li A, Holton J, Guerreiro R, Paudel R, Segarane B, Singleton A, Lees A, Hardy J, Houlden H, Revesz T, Wood NW.

Brain. 2009 Jul;132(Pt 7):1783-94. doi: 10.1093/brain/awp044. Epub 2009 Mar 13.

41.

Acute presentations of inherited metabolic disease in adulthood.

Lee PJ, Lachmann RH.

Clin Med (Lond). 2008 Dec;8(6):621-4. No abstract available.

PMID:
19149286
42.

A new surrogate marker for CNS pathology in Niemann-Pick disease type C?

Platt FM, Lachmann RH.

Mol Genet Metab. 2009 Feb;96(2):53-4. doi: 10.1016/j.ymgme.2008.10.015. Epub 2008 Dec 10. No abstract available.

PMID:
19083252
43.

A novel HEXB mutation and its structural effects in juvenile Sandhoff disease.

Wang SZ, Cachón-González MB, Stein PE, Lachmann RH, Corry PC, Wraith JE, Cox TM.

Mol Genet Metab. 2008 Dec;95(4):236-8. doi: 10.1016/j.ymgme.2008.08.007. Epub 2008 Oct 18.

PMID:
18930675
44.

Treating lysosomal storage disorders: current practice and future prospects.

Platt FM, Lachmann RH.

Biochim Biophys Acta. 2009 Apr;1793(4):737-45. doi: 10.1016/j.bbamcr.2008.08.009. Epub 2008 Sep 5. Review.

45.

An adult with type 2 citrullinemia presenting in Europe.

Fiermonte G, Soon D, Chaudhuri A, Paradies E, Lee PJ, Krywawych S, Palmieri F, Lachmann RH.

N Engl J Med. 2008 Mar 27;358(13):1408-9. doi: 10.1056/NEJMc0707353. No abstract available.

PMID:
18367750
46.

Depression in adults with Fabry disease: a common and under-diagnosed problem.

Cole AL, Lee PJ, Hughes DA, Deegan PB, Waldek S, Lachmann RH.

J Inherit Metab Dis. 2007 Nov;30(6):943-51. Epub 2007 Nov 12.

PMID:
17994284
47.

Glucosylated free oligosaccharides are biomarkers of endoplasmic- reticulum alpha-glucosidase inhibition.

Alonzi DS, Neville DC, Lachmann RH, Dwek RA, Butters TD.

Biochem J. 2008 Jan 15;409(2):571-80.

PMID:
17868040
48.

Miglustat: substrate reduction therapy for glycosphingolipid lysosomal storage disorders.

Lachmann RH.

Drugs Today (Barc). 2006 Jan;42(1):29-38. Review.

PMID:
16511609
49.

alpha-glucosidase (CHO) (Genzyme).

Lachmann RH.

Curr Opin Investig Drugs. 2004 Oct;5(10):1101-10. Review.

PMID:
15535432
50.

Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease.

Elstein D, Hollak C, Aerts JM, van Weely S, Maas M, Cox TM, Lachmann RH, Hrebicek M, Platt FM, Butters TD, Dwek RA, Zimran A.

J Inherit Metab Dis. 2004;27(6):757-66.

PMID:
15505381

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