Publications by authors named "Robin Lachmann"

75Publications

Registries for orphan drugs: generating evidence or marketing tools?

Orphanet J Rare Dis 2020 09 3;15(1):235. Epub 2020 Sep 3.

Platform Medicine for Society at Amsterdam University Medical Centers, location Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/s13023-020-01519-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7469301PMC
September 2020

Education and training in adult metabolic medicine: Results of an international survey.

JIMD Rep 2019 Sep 21;49(1):63-69. Epub 2019 Jun 21.

Reference Center for Neurometabolic Diseases La Pitié-Salpêtriere University Hospital Paris France.

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http://dx.doi.org/10.1002/jmd2.12044DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6718119PMC
September 2019

Treating lysosomal storage disorders: What have we learnt?

Authors:
Robin H Lachmann

J Inherit Metab Dis 2020 01 26;43(1):125-132. Epub 2019 Jun 26.

Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1002/jimd.12131DOI Listing
January 2020

The neurological and psychological phenotype of adult patients with early-treated phenylketonuria: A systematic review.

J Inherit Metab Dis 2019 03;42(2):209-219

Division of Inborn Metabolic Diseases, Department of Paediatrics, University Hospital, Padua, Italy.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12065
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http://dx.doi.org/10.1002/jimd.12065DOI Listing
March 2019

Editorial.

J Inherit Metab Dis 2018 09;41(5):899-900

, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-018-0237-5DOI Listing
September 2018

Proposed Stages of Myocardial Phenotype Development in Fabry Disease.

JACC Cardiovasc Imaging 2019 08 16;12(8 Pt 2):1673-1683. Epub 2018 May 16.

Cardiology Department, Barts Heart Centre, London, United Kingdom; Institute of Cardiovascular Science, University College London, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jcmg.2018.03.020DOI Listing
August 2019

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

J Med Case Rep 2018 May 17;12(1):134. Epub 2018 May 17.

Metabolic Medicine, Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1186/s13256-018-1666-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5956736PMC
May 2018

Mucolipidosis type III, a series of adult patients.

J Inherit Metab Dis 2018 09 27;41(5):839-848. Epub 2018 Apr 27.

Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-018-0186-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133174PMC
September 2018

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

Neurology 2018 04 21;90(16):e1379-e1385. Epub 2018 Mar 21.

From the Stroke Research Centre, Department of Brain Repair and Rehabilitation (P.P., A.M., I.D., X.G., D.J.W.), UCL Institute of Neurology; Charles Dent Metabolic Unit (A.M., E.M., R.H.L.), National Hospital for Neurology and Neurosurgery, London; Beaumont Hospital and Royal College of Surgeons in Ireland (A.M.), Beaumont, Dublin; Academic Department of Neuroradiology (I.D., X.G.), Department of Brain Repair and Rehabilitation, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, London; Department of Neuropsychology (F.B., L.C.), National Hospital for Neurology and Neurosurgery; Department of Biostatistics (F.J.), UCL and University College London Hospitals; Department of Neuroinflammation (C.W.-K.), UCL Institute of Neurology; and Lysosomal Storage Disorders Unit (D.H.), Royal Free Hospital, London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000005330DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5902785PMC
April 2018

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

J Inherit Metab Dis 2018 09 19;41(5):865-876. Epub 2018 Feb 19.

Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.

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http://link.springer.com/10.1007/s10545-018-0147-6
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http://dx.doi.org/10.1007/s10545-018-0147-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133187PMC
September 2018

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

Neuromuscul Disord 2018 04 10;28(4):346-349. Epub 2018 Jan 10.

MRC Centre for Neuromuscular Disease and Division of Neuropathology, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1016/j.nmd.2018.01.002DOI Listing
April 2018

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

J Inherit Metab Dis 2018 09 5;41(5):829-838. Epub 2018 Jan 5.

Clinical Development, Rare Diseases, Sanofi Genzyme, 1, Avenue Pierre Brossolette, 91385, Chilly-Mazarin, France.

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http://dx.doi.org/10.1007/s10545-017-0123-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133173PMC
September 2018

Isolated aortic root dilation in homocystinuria.

J Inherit Metab Dis 2018 01 4;41(1):109-115. Epub 2017 Oct 4.

Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.

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http://dx.doi.org/10.1007/s10545-017-0094-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5786652PMC
January 2018

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

Pract Neurol 2016 Aug 23;16(4):328-33. Epub 2016 Mar 23.

Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1136/practneurol-2015-001320DOI Listing
August 2016

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

JIMD Rep 2015 13;22:77-83. Epub 2015 Mar 13.

Department of Neurosurgery, University Hospital Munich, Ludwig-Maximilians-University (LMU), Marchioninistraße 15, 81377, Munich, Germany,

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http://dx.doi.org/10.1007/8904_2015_414DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4486267PMC
July 2015

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

J Neuromuscul Dis 2015;2(s1):S67-S68

Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust, Salford, Manchester, UK.

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January 2015

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

JIMD Rep 2014 16;17:83-90. Epub 2014 Sep 16.

Department of Internal Medicine, Division Endocrinology and Metabolism, Amsterdam lysosome centre 'Sphinx', Academic Medical Center, University of Amsterdam, Room F5-166, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/8904_2014_342DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4241201PMC
November 2014

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

Mol Genet Metab 2015 Feb 20;114(2):242-7. Epub 2014 Aug 20.

Department of Endocrinology and Metabolism, Academic Medical Center, Amsterdam Lysosome Center 'Sphinx', Amsterdam, Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.08.007DOI Listing
February 2015

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

Orphanet J Rare Dis 2013 Oct 12;8:160. Epub 2013 Oct 12.

Friedrich-Baur Institut, Neurologische Klinik, Klinikum der Universität München, München, Germany.

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http://dx.doi.org/10.1186/1750-1172-8-160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4015278PMC
October 2013

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

J Inherit Metab Dis 2014 Mar 16;37(2):177-87. Epub 2013 Aug 16.

Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, 8-11 Queen Square, Internal Mailbox 92, London, WC1N 3BG, UK.

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http://link.springer.com/10.1007/s10545-013-9643-x
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http://dx.doi.org/10.1007/s10545-013-9643-xDOI Listing
March 2014

Movement disorders in adult patients with classical galactosemia.

Mov Disord 2013 Jun 11;28(6):804-10. Epub 2013 Feb 11.

Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom.

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http://dx.doi.org/10.1002/mds.25348DOI Listing
June 2013

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

Mov Disord 2012 Dec 2;27(14):1769-74. Epub 2012 Nov 2.

Sobell Department for Movement Disorders and Motor Neuroscience, UCL Institute of Neurology, London, United Kingdom.

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http://dx.doi.org/10.1002/mds.25229DOI Listing
December 2012

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

Am J Cardiol 2013 Jan 4;111(1):111-7. Epub 2012 Oct 4.

Heart Hospital, University College London Hospitals, National Health Service Foundation Trust, London, United Kingdom.

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http://dx.doi.org/10.1016/j.amjcard.2012.08.055DOI Listing
January 2013

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

J Inherit Metab Dis 2012 Mar 7;35(2):245-51. Epub 2011 Sep 7.

Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Internal Mailbox 92 Queen Square, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1007/s10545-011-9384-7DOI Listing
March 2012

Enzyme replacement therapy for lysosomal storage diseases.

Authors:
Robin H Lachmann

Curr Opin Pediatr 2011 Dec;23(6):588-93

Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.

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http://dx.doi.org/10.1097/MOP.0b013e32834c20d9DOI Listing
December 2011

A series of pregnancies in women with inherited metabolic disease.

J Inherit Metab Dis 2012 May 15;35(3):419-24. Epub 2011 Sep 15.

Centre for Lysosomal and Metabolic diseases, Departments of Internal Medicine and Pediatrics, Erasmus MC, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-011-9389-2DOI Listing
May 2012

Incidence and predictors of anti-bradycardia pacing in patients with Anderson-Fabry disease.

Europace 2011 Dec 18;13(12):1781-8. Epub 2011 Aug 18.

The Heart Hospital, University College London Hospitals NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1093/europace/eur267DOI Listing
December 2011

Movement disorders in adult surviving patients with maple syrup urine disease.

Mov Disord 2011 Jun 11;26(7):1324-8. Epub 2011 Apr 11.

Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, United Kingdom.

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http://dx.doi.org/10.1002/mds.23629DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4235248PMC
June 2011

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

J Inherit Metab Dis 2011 Apr 3;34(2):449-54. Epub 2011 Feb 3.

Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1007/s10545-010-9276-2DOI Listing
April 2011

Treatments for lysosomal storage disorders.

Authors:
Robin Lachmann

Biochem Soc Trans 2010 Dec;38(6):1465-8

Charles Dent Metabolic Unit, Box 92, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.

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http://dx.doi.org/10.1042/BST0381465DOI Listing
December 2010

Substrate-reduction therapy with miglustat for glycosphingolipid storage disorders affecting the brain.

Authors:
Robin H Lachmann

Expert Rev Endocrinol Metab 2009 May;4(3):217-224

a Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.

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http://dx.doi.org/10.1586/eem.09.8DOI Listing
May 2009

Acute presentations of inherited metabolic disease in adulthood.

Clin Med (Lond) 2008 Dec;8(6):621-4

Charles Dent Metabolic Unit, The National Hospital for Neurology and Neurosurgery Queen Square, London.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4954402PMC
http://dx.doi.org/10.7861/clinmedicine.8-6-621DOI Listing
December 2008

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

Mol Genet Metab 2009 Feb 10;96(2):53-4. Epub 2008 Dec 10.

Department of Pharmacology, University of Oxford, Mansfield Road, Oxford OX13QT, UK.

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http://dx.doi.org/10.1016/j.ymgme.2008.10.015DOI Listing
February 2009

Treating lysosomal storage disorders: current practice and future prospects.

Biochim Biophys Acta 2009 Apr 5;1793(4):737-45. Epub 2008 Sep 5.

Department of Pharmacology, University of Oxford, Mansfield Road, Oxford, OX1 3QT, UK.

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http://dx.doi.org/10.1016/j.bbamcr.2008.08.009DOI Listing
April 2009

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

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

Oxford Glycobiology Institute, Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, UK.

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http://dx.doi.org/10.1042/BJ20070748DOI Listing
January 2008

Miglustat: substrate reduction therapy for glycosphingolipid lysosomal storage disorders.

Authors:
Robin H Lachmann

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

Charles Dent Metabolic Unit, The National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1358/dot.2006.42.1.937457DOI Listing
January 2006

alpha-glucosidase (CHO) (Genzyme).

Authors:
Robin H Lachmann

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

University of Cambridge, Department of Medicine, Box 157, Addenbrooke's Hospital, Hills Road, Cambridge CB2 2QQ, UK.

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October 2004

Herpes simplex virus-based vectors.

Authors:
Robin Lachmann

Int J Exp Pathol 2004 Oct;85(4):177-90

Department of Medicine, University of Cambridge, Cambridge, UK.

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http://dx.doi.org/10.1111/j.0959-9673.2004.00383.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2517519PMC
October 2004

Herpes simplex virus latency.

Authors:
Robin Lachmann

Expert Rev Mol Med 2003 Dec 5;5(29):1-14. Epub 2003 Dec 5.

Department of Medicine, Box 157, Addenbrooke's Hospital, Hills Road, Cambridge, CB2 2QQ, UK.

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http://dx.doi.org/10.1017/S1462399403006975DOI Listing
December 2003

Miglustat. Oxford GlycoSciences/Actelion.

Authors:
Robin H Lachmann

Curr Opin Investig Drugs 2003 Apr;4(4):472-9

University of Cambridge, Department of Medicine, Addenbrooke's Hospital, Hills Road, Cambridge, CB2 2QQ, UK.

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April 2003