Dr Robin Lachmann

1: Lachmann RH. Treating lysosomal storage disorders: What have we learnt? J
Inherit Metab Dis. 2020 Jan;43(1):125-132. doi: 10.1002/jimd.12131. Epub 2019
Jun 26. PMID: 31140601.

2: 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. 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. J
Bone Miner Res. 2018 Aug;33(8):1383-1393. doi: 10.1002/jbmr.3475. Epub 2018 Jun
26. PMID: 29947083.

3: 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. Increased
resting cerebral blood flow in adult Fabry disease: MRI arterial spin labeling
study. Neurology. 2018 Apr 17;90(16):e1379-e1385. doi:
10.1212/WNL.0000000000005330. Epub 2018 Mar 21. PMID: 29661900; PMCID:
PMC5902785.

4: Chesher D, Oddy M, Darbar U, Sayal P, Casey A, Ryan A, Sechi A, Simister C,
Waters A, Wedatilake Y, Lachmann RH, Murphy E. Outcome of adult patients with
X-linked hypophosphatemia caused by PHEX gene mutations. J Inherit Metab Dis.
2018 Sep;41(5):865-876. doi: 10.1007/s10545-018-0147-6. Epub 2018 Feb 19. PMID:
29460029; PMCID: PMC6133187.

5: Wasserstein MP, Diaz GA, Lachmann RH, Jouvin MH, Nandy I, Ji AJ, Puga AC.
Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety
and efficacy in adults treated for 30 months. J Inherit Metab Dis. 2018
Sep;41(5):829-838. doi: 10.1007/s10545-017-0123-6. Epub 2018 Jan 5. PMID:
29305734; PMCID: PMC6133173.

6: 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. European consensus
for starting and stopping enzyme replacement therapy in adult patients with
Pompe disease: a 10-year experience. Eur J Neurol. 2017 Jun;24(6):768-e31. doi:
10.1111/ene.13285. Epub 2017 May 6. PMID: 28477382.

7: 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. Oral
pharmacological chaperone migalastat compared with enzyme replacement therapy in
Fabry disease: 18-month results from the randomised phase III ATTRACT study. 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;: PMID: 27834756; PMCID:
PMC5502308.

8: 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.
The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic
Centres: Report from the SSIEM Adult Metabolic Physicians Group. JIMD Rep.
2016;27:85-91. doi: 10.1007/8904_2015_435. Epub 2015 Oct 9. PMID: 26450566;
PMCID: PMC5580735.

9: 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.
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients
with Fabry disease. J Med Genet. 2015 May;52(5):353-8. doi:
10.1136/jmedgenet-2014-102797. Epub 2015 Mar 20. PMID: 25795794; PMCID:
PMC4413801.

10: Hofereiter J, Smith MD, Seth J, Tudor KI, Fox Z, Emmanuel A, Murphy E,
Lachmann RH, Panicker J. Bladder and Bowel Dysfunction Is Common in Both Men and
Women with Mutation of the ABCD1 Gene for X-Linked Adrenoleukodystrophy. JIMD
Rep. 2015;22:77-83. doi: 10.1007/8904_2015_414. Epub 2015 Mar 13. PMID:
25763509; PMCID: PMC4486267.

11: Anderson LJ, Henley W, Wyatt KM, Nikolaou V, Waldek S, Hughes DA, Lachmann
RH, Logan S. Effectiveness of enzyme replacement therapy in adults with late-
onset Pompe disease: results from the NCS-LSD cohort study. J Inherit Metab Dis.
2014 Nov;37(6):945-52. doi: 10.1007/s10545-014-9728-1. Epub 2014 Jun 7. PMID:
24906254.

12: 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. Relative acidic compartment volume as a lysosomal storage disorder-
associated biomarker. J Clin Invest. 2014 Mar;124(3):1320-8. doi:
10.1172/JCI72835. PMID: 24487591; PMCID: PMC3934186.