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Items: 1 to 50 of 149

1.

Editorial.

Lachmann R, Hollak C.

J Inherit Metab Dis. 2018 Sep;41(5):899-900. doi: 10.1007/s10545-018-0237-5. No abstract available.

PMID:
30547326
2.

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
3.

Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials.

Cortina-Borja M, Te Vruchte D, Mengel E, Amraoui Y, Imrie J, Jones SA, I Dali C, Fineran P, Kirkegaard T, Runz H, Lachmann R, Bremova-Ertl T, Strupp M, Platt FM.

Orphanet J Rare Dis. 2018 Aug 16;13(1):143. doi: 10.1186/s13023-018-0880-9.

4.

Cytomegalovirus (CMV) seroprevalence in the adult population of Germany.

Lachmann R, Loenenbach A, Waterboer T, Brenner N, Pawlita M, Michel A, Thamm M, Poethko-Müller C, Wichmann O, Wiese-Posselt M.

PLoS One. 2018 Jul 25;13(7):e0200267. doi: 10.1371/journal.pone.0200267. eCollection 2018.

5.

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
6.

Cardiac Phenotype of Prehypertrophic Fabry Disease.

Nordin S, Kozor R, Baig S, Abdel-Gadir A, Medina-Menacho K, Rosmini S, Captur G, Tchan M, Geberhiwot T, Murphy E, Lachmann R, Ramaswami U, Edwards NC, Hughes D, Steeds RP, Moon JC.

Circ Cardiovasc Imaging. 2018 Jun;11(6):e007168. doi: 10.1161/CIRCIMAGING.117.007168.

7.

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
8.

Valproate-induced hyperammonemia - uncovering an underlying inherited metabolic disorder: a case report.

Mehta S, Tayabali S, Lachmann R.

J Med Case Rep. 2018 May 17;12(1):134. doi: 10.1186/s13256-018-1666-3.

9.

Mucolipidosis type III, a series of adult patients.

Oussoren E, van Eerd D, Murphy E, Lachmann R, van der Meijden JC, Hoefsloot LH, Verdijk R, Ruijter GJG, Maas M, Hollak CEM, Langendonk JG, van der Ploeg AT, Langeveld M.

J Inherit Metab Dis. 2018 Sep;41(5):839-848. doi: 10.1007/s10545-018-0186-z. Epub 2018 Apr 27.

10.

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
11.

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.

12.

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
13.

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.

14.

Comment on "A prospective study on fetal posterior cranial fossa assessment for early detection of open spina bifida at 11-13 weeks" by Kose et al.

Lachmann R.

Congenit Anom (Kyoto). 2018 Mar;58(2):77. doi: 10.1111/cga.12265. Epub 2018 Jan 30. No abstract available.

PMID:
29266422
15.

Isolated Cleft Lip and Palate: Maxillary Gap Sign and Palatino-Maxillary Diameter at 11-13 Weeks.

Lachmann R, Schilling U, Brückmann D, Weichert A, Brückmann A.

Fetal Diagn Ther. 2018;44(4):241-246. doi: 10.1159/000481773. Epub 2017 Oct 26.

PMID:
29073631
16.

Isolated aortic root dilation in homocystinuria.

Lorenzini M, Guha N, Davison JE, Pitcher A, Pandya B, Kemp H, Lachmann R, Elliott PM, Murphy E.

J Inherit Metab Dis. 2018 Jan;41(1):109-115. doi: 10.1007/s10545-017-0094-7. Epub 2017 Oct 4.

17.

Issues with European guidelines for phenylketonuria.

Burgard P, Ullrich K, Ballhausen D, Hennermann JB, Hollak CEM, Langeveld M, Karall D, Konstantopoulou V, Maier EM, Lang F, Lachmann R, Murphy E, Garbade S, Hoffmann GF, Kölker S, Lindner M, Zschocke J.

Lancet Diabetes Endocrinol. 2017 Sep;5(9):681-683. doi: 10.1016/S2213-8587(17)30201-2. No abstract available.

PMID:
28842158
18.

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
19.

Expanding the phenotype in argininosuccinic aciduria: need for new therapies.

Baruteau J, Jameson E, Morris AA, Chakrapani A, Santra S, Vijay S, Kocadag H, Beesley CE, Grunewald S, Murphy E, Cleary M, Mundy H, Abulhoul L, Broomfield A, Lachmann R, Rahman Y, Robinson PH, MacPherson L, Foster K, Chong WK, Ridout DA, Bounford KM, Waddington SN, Mills PB, Gissen P, Davison JE.

J Inherit Metab Dis. 2017 May;40(3):357-368. doi: 10.1007/s10545-017-0022-x. Epub 2017 Mar 1.

20.

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.

Hughes DA, Nicholls K, Shankar SP, Sunder-Plassmann G, Koeller D, Nedd K, Vockley G, Hamazaki T, Lachmann R, Ohashi T, Olivotto I, Sakai N, Deegan P, Dimmock D, Eyskens F, Germain DP, Goker-Alpan O, Hachulla E, Jovanovic A, Lourenco CM, Narita I, Thomas M, Wilcox WR, Bichet DG, Schiffmann R, Ludington E, Viereck C, Kirk J, Yu J, Johnson F, Boudes P, Benjamin ER, Lockhart DJ, Barlow C, Skuban N, Castelli JP, Barth J, Feldt-Rasmussen U.

J Med Genet. 2017 Apr;54(4):288-296. doi: 10.1136/jmedgenet-2016-104178. Epub 2016 Nov 10. Erratum in: J Med Genet. 2018 Apr 16;:.

21.

Differences and similarities between human and chimpanzee neural progenitors during cerebral cortex development.

Mora-Bermúdez F, Badsha F, Kanton S, Camp JG, Vernot B, Köhler K, Voigt B, Okita K, Maricic T, He Z, Lachmann R, Pääbo S, Treutlein B, Huttner WB.

Elife. 2016 Sep 26;5. pii: e18683. doi: 10.7554/eLife.18683.

22.

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.

23.

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
24.

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.

25.

Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks.

Hollak CE, Biegstraaten M, Baumgartner MR, Belmatoug N, Bembi B, Bosch A, Brouwers M, Dekker H, Dobbelaere D, Engelen M, Groenendijk MC, Lachmann R, Langendonk JG, Langeveld M, Linthorst G, Morava E, Poll-The BT, Rahman S, Rubio-Gozalbo ME, Spiekerkoetter U, Treacy E, Wanders R, Zschocke J, Hagendijk R.

Orphanet J Rare Dis. 2016 Jan 25;11:7. doi: 10.1186/s13023-016-0383-5.

26.

Human cerebral organoids recapitulate gene expression programs of fetal neocortex development.

Camp JG, Badsha F, Florio M, Kanton S, Gerber T, Wilsch-Bräuninger M, Lewitus E, Sykes A, Hevers W, Lancaster M, Knoblich JA, Lachmann R, Pääbo S, Huttner WB, Treutlein B.

Proc Natl Acad Sci U S A. 2015 Dec 22;112(51):15672-7. doi: 10.1073/pnas.1520760112. Epub 2015 Dec 7.

27.

The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group.

Sirrs S, Hollak C, Merkel M, Sechi A, Glamuzina E, Janssen MC, Lachmann R, Langendonk J, Scarpelli M, Ben Omran T, Mochel F; SFEIM-A Study Group, Tchan MC.

JIMD Rep. 2016;27:85-91. doi: 10.1007/8904_2015_435. Epub 2015 Oct 9.

28.

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
29.

Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.

Chien YH, Abdenur JE, Baronio F, Bannick AA, Corrales F, Couce M, Donner MG, Ficicioglu C, Freehauf C, Frithiof D, Gotway G, Hirabayashi K, Hofstede F, Hoganson G, Hwu WL, James P, Kim S, Korman SH, Lachmann R, Levy H, Lindner M, Lykopoulou L, Mayatepek E, Muntau A, Okano Y, Raymond K, Rubio-Gozalbo E, Scholl-Bürgi S, Schulze A, Singh R, Stabler S, Stuy M, Thomas J, Wagner C, Wilson WG, Wortmann S, Yamamoto S, Pao M, Blom HJ.

Orphanet J Rare Dis. 2015 Aug 20;10:99. doi: 10.1186/s13023-015-0321-y. Review.

30.

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Kölker S, Cazorla AG, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Chabrol B, Chakrapani A, Chapman K, I Saladelafont EC, Couce ML, de Meirleir L, Dobbelaere D, Dvorakova V, Furlan F, Gleich F, Gradowska W, Grünewald S, Jalan A, Häberle J, Haege G, Lachmann R, Laemmle A, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, de Baulny HO, Ortez C, Peña-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Staufner C, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Burgard P.

J Inherit Metab Dis. 2015 Nov;38(6):1155-6. doi: 10.1007/s10545-015-9867-z. No abstract available.

PMID:
26077420
31.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Kölker S, Garcia-Cazorla A, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Chabrol B, Chakrapani A, Chapman K, I Saladelafont EC, Couce ML, de Meirleir L, Dobbelaere D, Dvorakova V, Furlan F, Gleich F, Gradowska W, Grünewald S, Jalan A, Häberle J, Haege G, Lachmann R, Laemmle A, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, de Baulny HO, Ortez C, Peña-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Staufner C, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Burgard P.

J Inherit Metab Dis. 2015 Nov;38(6):1041-57. doi: 10.1007/s10545-015-9839-3. Epub 2015 Apr 15. Erratum in: J Inherit Metab Dis. 2015 Nov;38(6):1155-6.

PMID:
25875215
32.

A comparative phase 1 clinical trial to identify anti-infective mechanisms of vitamin D in people with HIV infection.

Lachmann R, Bevan MA, Kim S, Patel N, Hawrylowicz C, Vyakarnam A, Peters BS.

AIDS. 2015 Jun 19;29(10):1127-35. doi: 10.1097/QAD.0000000000000666.

33.

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.

34.

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.

35.

Human-specific gene ARHGAP11B promotes basal progenitor amplification and neocortex expansion.

Florio M, Albert M, Taverna E, Namba T, Brandl H, Lewitus E, Haffner C, Sykes A, Wong FK, Peters J, Guhr E, Klemroth S, Prüfer K, Kelso J, Naumann R, Nüsslein I, Dahl A, Lachmann R, Pääbo S, Huttner WB.

Science. 2015 Mar 27;347(6229):1465-70. doi: 10.1126/science.aaa1975. Epub 2015 Feb 26.

36.

Clinical and genetic predictors of major cardiac events in patients with Anderson-Fabry Disease.

Patel V, O'Mahony C, Hughes D, Rahman MS, Coats C, Murphy E, Lachmann R, Mehta A, Elliott PM.

Heart. 2015 Jun;101(12):961-6. doi: 10.1136/heartjnl-2014-306782. Epub 2015 Feb 5.

PMID:
25655062
37.

A National Pilot Study to Investigate the Effects of Sub-Maximal Aerobic Exercise in Adults with Late-Onset Pompe Disease.

Murphy E, Lachmann R, Roberts M, Dando SJ, Silk E, Henricksz C.

J Neuromuscul Dis. 2015;2(s1):S67-S68. No abstract available.

PMID:
27858655
38.

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.

39.

Effect of blood on ROM diagnosis accuracy of PAMG-1 and IGFBP-1 detecting rapid tests.

Ramsauer B, Duwe W, Schlehe B, Pitts R, Wagner D, Wutkewicz K, Chuvashkin D, Abele H, Lachmann R.

J Perinat Med. 2015 Jul;43(4):417-22. doi: 10.1515/jpm-2014-0227.

PMID:
25389980
40.

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.

41.

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
42.

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
43.

Explorative investigation of vascular endothelial growth factor receptor expression in primary ovarian cancer and its clinical relevance.

Wimberger P, Chebouti I, Kasimir-Bauer S, Lachmann R, Kuhlisch E, Kimmig R, Süleyman E, Kuhlmann JD.

Gynecol Oncol. 2014 Jun;133(3):467-72. doi: 10.1016/j.ygyno.2014.03.574. Epub 2014 Apr 5.

PMID:
24713547
44.

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.

45.

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
46.

Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1.

Speak AO, Te Vruchte D, Davis LC, Morgan AJ, Smith DA, Yanjanin NM, Simmons L, Hartung R, Runz H, Mengel E, Beck M, Imrie J, Jacklin E, Wraith JE, Hendriksz C, Lachmann R, Cognet C, Sidhu R, Fujiwara H, Ory DS, Galione A, Porter FD, Vivier E, Platt FM.

Blood. 2014 Jan 2;123(1):51-60. doi: 10.1182/blood-2013-03-488692. Epub 2013 Nov 14.

47.

Dietary practices in pyridoxine non-responsive homocystinuria: a European survey.

Adam S, Almeida MF, Carbasius Weber E, Champion H, Chan H, Daly A, Dixon M, Dokoupil K, Egli D, Evans S, Eyskens F, Faria A, Ferguson C, Hallam P, Heddrich-Ellerbrok M, Jacobs J, Jankowski C, Lachmann R, Lilje R, Link R, Lowry S, Luyten K, MacDonald A, Maritz C, Martins E, Meyer U, Müller E, Murphy E, Robertson LV, Rocha JC, Saruggia I, Schick P, Stafford J, Stoelen L, Terry A, Thom R, van den Hurk T, van Rijn M, van Teefelen-Heithoff A, Webster D, White FJ, Wildgoose J, Zweers H.

Mol Genet Metab. 2013 Dec;110(4):454-9. doi: 10.1016/j.ymgme.2013.10.003. Epub 2013 Oct 10.

PMID:
24206934
48.

The clinical relevance of outcomes used in late-onset Pompe disease: can we do better?

Lachmann R, Schoser B.

Orphanet J Rare Dis. 2013 Oct 12;8:160. doi: 10.1186/1750-1172-8-160. Review.

49.

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
50.

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.

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