Lista de obras - Robin Lachmann - Dominio Público Uruguay

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

artículo científico publicado en 2015

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

artículo científico publicado en 1996

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

artículo científico publicado en 2008

A practical approach to diagnosing adult onset leukodystrophies

artículo científico publicado en 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.

artículo científico publicado en 2008

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

artículo científico publicado en 2013

An adult with type 2 citrullinemia presenting in Europe

artículo científico publicado en 2008

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico

Childhood Pompe disease: clinical spectrum and genotype in 31 patients

artículo científico publicado en 2016

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

artículo científico

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

artículo científico publicado en 2015

Cognitive dysfunction and depression in Fabry disease: a systematic review

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2007

Dietary modifications in patients receiving miglustat.

artículo científico publicado en 2010

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

artículo científico publicado en 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.

artículo científico publicado en 2014

Enzyme replacement therapy for lysosomal storage diseases

artículo científico

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2018

Gene transfer with herpes simplex vectors

artículo científico publicado en 1999

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

artículo científico publicado en 2009

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

artículo científico publicado en 2008

Herpes simplex virus latency.

artículo científico publicado en 2003

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

artículo científico publicado en 2001

Herpes simplex virus-based vectors

artículo científico publicado en 2004

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

artículo científico publicado en 2016

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

artículo científico

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

artículo científico publicado en 2016

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

artículo científico publicado en 2011

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

artículo científico publicado en 2001

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

artículo científico publicado en 2012

Isolated aortic root dilation in homocystinuria

artículo científico publicado en 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

artículo científico publicado en 2000

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

scientific article published on 01 April 2000

Miglustat. Oxford GlycoSciences/Actelion.

artículo científico publicado en 2003

Miglustat: substrate reduction therapy for glycosphingolipid lysosomal storage disorders

artículo científico publicado en 2006

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

artículo científico publicado en 2010

Movement disorders in adult surviving patients with maple syrup urine disease

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2000

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

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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

artículo científico publicado en 2009

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

artículo científico

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

Sapropterin hydrochloride: enzyme enhancement therapy for phenylketonuria ⬇️

artículo científico publicado el 1 de junio de 2011

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

artículo científico publicado en 2004

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2008

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

artículo científico publicado en 2004

Treatments for lysosomal storage disorders ⬇️

artículo científico publicado el 1 de diciembre de 2010

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

artículo científico publicado en 2004

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 1999

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

artículo científico publicado en 1997

alpha-glucosidase (CHO) (Genzyme).

artículo científico publicado en 2004

Lista de obras de Robin Lachmann

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

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

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

A practical approach to diagnosing adult onset leukodystrophies

A series of pregnancies in women with inherited metabolic disease

Acute presentations of inherited metabolic disease in adulthood.

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

An adult with type 2 citrullinemia presenting in Europe

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

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

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

Childhood Pompe disease: clinical spectrum and genotype in 31 patients

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

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

Cognitive dysfunction and depression in Fabry disease: a systematic review

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

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

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

Dietary modifications in patients receiving miglustat.

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

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

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

Enzyme replacement therapy for lysosomal storage diseases

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

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

Expanding the phenotype in argininosuccinic aciduria: need for new therapies

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

Gene transfer with herpes simplex vectors

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

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

Herpes simplex virus latency.

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

Herpes simplex virus-based vectors

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

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

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

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

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

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

Isolated aortic root dilation in homocystinuria

Issues with European guidelines for phenylketonuria

Latency vs Saccadic Parameters in Lysosomal Trials

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

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

Miglustat. Oxford GlycoSciences/Actelion.

Miglustat: substrate reduction therapy for glycosphingolipid lysosomal storage disorders

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

Movement disorders in adult surviving patients with maple syrup urine disease

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

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

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

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

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

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

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

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

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

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

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

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

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

Sapropterin hydrochloride: enzyme enhancement therapy for phenylketonuria ⬇️

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

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

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

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

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

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

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

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

Treating lysosomal storage disorders: What have we learnt?

Treating lysosomal storage disorders: current practice and future prospects

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

Treatments for lysosomal storage disorders ⬇️

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

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

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

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

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