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List of works by Robin Lachmann

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

scientific article

A murine RNA polymerase I promoter inserted into the herpes simplex virus type 1 genome is functional during lytic, but not latent, infection.

scientific article published on October 1996

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

scientific article published on 10 December 2008

A practical approach to diagnosing adult onset leukodystrophies

scientific article published on 19 December 2013

A series of pregnancies in women with inherited metabolic disease

scientific article published on 15 September 2011

Acute presentations of inherited metabolic disease in adulthood.

scientific article published in December 2008

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

scientific article

An adult with type 2 citrullinemia presenting in Europe

scientific article published in March 2008

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

scientific article

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

scientific article published on 13 March 2015

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

scientific article published on 30 August 2012

Childhood Pompe disease: clinical spectrum and genotype in 31 patients

scientific article published on 18 May 2016

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

scientific article published on 20 August 2014

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

scientific article published on 5 February 2015

Cognitive dysfunction and depression in Fabry disease: a systematic review

scientific article published on 16 August 2013

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

scientific article published on 08 May 2012

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

scientific article published on 19 June 2013

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

scientific article published on 12 November 2007

Dietary modifications in patients receiving miglustat.

scientific article published on 16 September 2010

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

scientific article published on 10 October 2013

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

scientific article published on 03 February 2011

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

scientific article published on 7 June 2014

Enzyme replacement therapy for lysosomal storage diseases

scientific article published on December 2011

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

scientific article published on 6 May 2017

Exercise-Induced Left Ventricular Outflow Tract Obstruction in Symptomatic Patients With Anderson-Fabry Disease

scientific article published on 01 June 2011

Expanding the phenotype in argininosuccinic aciduria: need for new therapies

scientific article

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

scientific article published on 10 January 2018

Gene transfer with herpes simplex vectors

scientific article

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

scientific article

Glucosylated free oligosaccharides are biomarkers of endoplasmic- reticulum α-glucosidase inhibition

scientific article published on 01 January 2008

Herpes simplex virus latency.

scientific article published on 5 December 2003

Herpes simplex virus type 1 promoter activity during latency establishment, maintenance, and reactivation in primary dorsal root neurons in vitro.

scientific article published on April 2001

Herpes simplex virus-based vectors

scientific article published in October 2004

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

scientific article published on 23 March 2016

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

scientific article published on 05 April 2013

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

scientific article published on 7 March 2016

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

scientific article published on 18 August 2011

Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy

scientific article

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

scientific article

Isolated aortic root dilation in homocystinuria

scientific article published on 4 October 2017

Issues with European guidelines for phenylketonuria

scholarly article by Peter Burgard et al published September 2017 in The Lancet: Diabetes & Endocrinology

Latency vs Saccadic Parameters in Lysosomal Trials

scientific article published on 01 April 2011

Long-term transgene expression in mice infected with a herpes simplex virus type 1 mutant severely impaired for immediate-early gene expression

scientific article

Massive hepatic fibrosis in Gaucher's disease: clinico-pathological and radiological features

scientific article published on 01 April 2000

Miglustat. Oxford GlycoSciences/Actelion.

scientific article

Miglustat: substrate reduction therapy for glycosphingolipid lysosomal storage disorders

scientific article

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

scientific article published in March 2010

Movement disorders in adult surviving patients with maple syrup urine disease

scientific article

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

scientific article

Native T1 lowering in iron overload and Anderson Fabry disease; a novel and early marker of disease.

scientific article published on 30 January 2013

Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis.

scientific article

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

scientific article published on 5 January 2018

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

scientific article

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

scientific article published on 19 February 2018

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

scientific article published on 25 January 2016

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

scientific article published in December 2009

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

scientific article published on 07 September 2011

Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortage

scientific article published on 14 July 2012

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

scientific article published on March 2014

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

scientific article

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

scientific article published on 4 October 2012

Sapropterin hydrochloride: enzyme enhancement therapy for phenylketonuria ⬇️

scientific article published on June 1, 2011

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

scientific article published on January 2004

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

scientific article published on 20 March 2015

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

scientific article published on 9 October 2015

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

scientific article published on 02 April 2013

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

scientific article

The effectiveness and cost-effectiveness of enzyme and substrate replacement therapies: a longitudinal cohort study of people with lysosomal storage disorders.

scientific article published on January 2012

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

scientific article published on 15 April 2015

The use of herpes simplex virus-based vectors for gene delivery to the nervous system.

scientific article published on September 1997

Treating lysosomal storage disorders: What have we learnt?

scientific article published on 26 June 2019

Treating lysosomal storage disorders: current practice and future prospects

scientific article published on 05 September 2008

Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C.

scientific article

Treatments for lysosomal storage disorders ⬇️

scientific article published on December 1, 2010

Twin pairs showing discordance of phenotype in adult Gaucher's disease

scientific article published on 01 April 2004

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

scientific article

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

scientific article published on 13 August 2015

Use of herpes simplex virus type 1 for transgene expression within the nervous system

scientific article

Utilization of the herpes simplex virus type 1 latency-associated regulatory region to drive stable reporter gene expression in the nervous system.

scientific article published in April 1997

alpha-glucosidase (CHO) (Genzyme).

scientific article

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