Robin H. Lachmann: search on Z-Library

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1

Proposed Stages of Myocardial Phenotype Development in Fabry Disease

Nordin, Sabrina, Kozor, Rebecca, Medina-Menacho, Katia, Abdel-Gadir, Amna, Baig, Shanat, Sado, Daniel M., Lobascio, Ilaria, Murphy, Elaine, Lachmann, Robin H., Mehta, Atul, Edwards, Nicola C., Ramaswa

Journal:

Journal of the American College of Cardiology: Cardiovascular Imaging

Year:

2018

Language:

english

File:

PDF, 1.53 MB

english, 2018

2

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

Cortina-Borja, Mario, te Vruchte, Danielle, Mengel, Eugen, Amraoui, Yasmin, Imrie, Jackie, Jones, Simon A., i Dali, Christine, Fineran, Paul, Kirkegaard, Thomas, Runz, Heiko, Lachmann, Robin, Bremova-

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 2.91 MB

english, 2018

3

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

Charlotte Dawson, Elaine Murphy, Charlé Maritz, Heidi Chan, Charlotte Ellerton, R. H. S. Carpenter, Robin H. Lachmann

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 157 KB

english, 2011

4

Herpes simplex virus latency

Lachmann, Robin

Journal:

Expert Reviews in Molecular Medicine

Year:

2003

Language:

english

File:

PDF, 277 KB

english, 2003

5

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

Lachmann, Robin, Schoser, Benedikt

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 377 KB

english, 2013

6

Herpes simplex virus-based vectors

Journal:

International Journal of Experimental Pathology

Year:

2004

Language:

english

File:

PDF, 170 KB

english, 2004

7

Registries for orphan drugs: generating evidence or marketing tools?

Hollak, Carla E. M., Sirrs, Sandra, van den Berg, Sibren, van der Wel, Vincent, Langeveld, Mirjam, Dekker, Hanka, Lachmann, Robin, de Visser, Saco J.

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 630 KB

2020

8

Latency vs Saccadic Parameters in Lysosomal Trials

Jonathan C.P. Roos, Robin H. Lachmann, Roger H. Carpenter, Timothy M. Cox

Journal:

Year:

2011

Language:

english

File:

PDF, 372 KB

english, 2011

9

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

Timothy Cox, Robin Lachmann, Carla Hollak, Johannes Aerts, Sonja van Weely, Martin Hrebícek, Frances Platt, Terry Butters, Raymond Dwek, Chris Moyses, Irene Gow, Deborah Elstein, Ari Zimran

Journal:

Year:

2000

Language:

english

File:

PDF, 97 KB

english, 2000

10

Urinary excretion and metabolism of miglustat and valproate in patients with Niemann–Pick type C1 disease: One- and two-dimensional solution-state 1H NMR studies

Probert, Fay, Ruiz-Rodado, Victor, Zhang, Xiaoyu, Vruchte, Danielle te, Claridge, Tim D.W., Edgar, Mark, Tocchio, Anna Zonato, Lachmann, Robin H., Platt, Frances M., Grootveld, Martin

Journal:

Journal of Pharmaceutical and Biomedical Analysis

Year:

2016

Language:

english

File:

PDF, 2.03 MB

english, 2016

11

An Adult with Type 2 Citrullinemia Presenting in Europe

Fiermonte, Giuseppe, Soon, Derek, Chaudhuri, Abhijit, Paradies, Eleonora, Lee, Philip J., Krywawych, Steve, Palmieri, Ferdinando, Lachmann, Robin H.

Journal:

Boston Medical and Surgical Journal

Year:

2008

Language:

english

File:

PDF, 116 KB

english, 2008

12

Treating Lysosomal Storage Disorders: What Have We Learnt?

Lachmann, Robin H

Journal:

Journal of Inherited Metabolic Disease

Year:

2019

Language:

english

File:

PDF, 1010 KB

english, 2019

13

Editorial

Lachmann, Robin, Hollak, Carla

Journal:

Journal of Inherited Metabolic Disease

Year:

2018

File:

PDF, 277 KB

2018

14

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

Patel, Vimal, O'Mahony, Constantinos, Hughes, Derralynn, Rahman, Mohammad Shafiqur, Coats, Caroline, Murphy, Elaine, Lachmann, Robin, Mehta, Atul, Elliott, Perry M

Journal:

Heart (British Cardiac Society)

Year:

2015

Language:

english

File:

PDF, 695 KB

english, 2015

15

Role of Serum N-Terminal Pro-Brain Natriuretic Peptide Measurement in Diagnosis of Cardiac Involvement in Patients With Anderson-Fabry Disease

Caroline J. Coats, Valentina Parisi, Monica Ramos, Kalaiarasi Janagarajan, Constantinos O'Mahony, Anne Dawnay, Robin H. Lachmann, Elaine Murphy, Atul Mehta, Derralynn Hughes, Perry M. Elliott

Journal:

The American Journal of Cardiology

Year:

2013

Language:

english

File:

PDF, 292 KB

english, 2013

16

Mucolipidosis type III, a series of adult patients

Oussoren, Esmee, van Eerd, David, Murphy, Elaine, Lachmann, Robin, van der Meijden, Jan C., Hoefsloot, Lies H., Verdijk, Rob, Ruijter, George J. G., Maas, Mario, Hollak, Carla E. M., Langendonk, Janne

Journal:

Journal of Inherited Metabolic Disease

Year:

2018

Language:

english

File:

PDF, 6.02 MB

english, 2018

17

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

Mehta, Shaine, Tayabali, Sarrah, Lachmann, Robin

Journal:

Journal of Medical Case Reports

Year:

2018

Language:

english

File:

PDF, 318 KB

english, 2018

18

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

Alonzi, Dominic S., Neville, David C. A., Lachmann, Robin H., Dwek, Raymond A., Butters, Terry D.

Journal:

Biochemical Journal

Year:

2008

Language:

english

File:

PDF, 186 KB

english, 2008

19

SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation

Marquardt, Thorsten, Bzduch, Vladimir, Hogrebe, Max, Rust, Stephan, Reunert, Janine, GrÃ¼neberg, Marianne, Park, Julien, Callewaert, Nico, Lachmann, Robin, Wada, Yoshinao, Engel, Thomas

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

File:

PDF, 674 KB

2020

20

Treatment Options for Patients with Advanced Pompe Disease

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 54 KB

english, 2011

21

Increased resting cerebral blood flow in adult Fabry disease

Phyu, Po, Merwick, Aine, Davagnanam, Indran, Bolsover, Fay, Jichi, Fatima, Wheeler-Kingshott, Claudia, Golay, Xavier, Hughes, Deralynn, Cipolotti, Lisa, Murphy, Elaine, Lachmann, Robin H., Werring, Da

Journal:

Year:

2018

Language:

english

File:

PDF, 785 KB

english, 2018

22

Isolated aortic root dilation in homocystinuria

Lorenzini, Massimiliano, Guha, Nishan, Davison, James E., Pitcher, Alex, Pandya, Bejal, Kemp, Helena, Lachmann, Robin, Elliott, Perry M., Murphy, Elaine

Journal:

Journal of Inherited Metabolic Disease

Year:

2017

Language:

english

File:

PDF, 389 KB

english, 2017

23

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

Chesher, Douglas, Oddy, Michael, Darbar, Ulpee, Sayal, Parag, Casey, Adrian, Ryan, Aidan, Sechi, Annalisa, Simister, Charlotte, Waters, Aoife, Wedatilake, Yehani, Lachmann, Robin H., Murphy, Elaine

Journal:

Journal of Inherited Metabolic Disease

Year:

2018

Language:

english

File:

PDF, 3.61 MB

english, 2018

24

Enzyme replacement therapy for lysosomal storage diseases

Lachmann, Robin H.

Journal:

Current Opinion in Pediatrics

Year:

2011

Language:

english

File:

PDF, 134 KB

english, 2011

25

Treatments for lysosomal storage disorders

Lachmann, Robin

Journal:

Biochemical Society Transactions

Year:

2010

Language:

english

File:

PDF, 79 KB

english, 2010

26

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

Desikan, Mahalekshmi, Scalco, Renata Siciliani, Manole, Andreea, Gardiner, Alice R., Schapira, Anthony H., Lachmann, Robin H., Houlden, Henry, Holton, Janice L., Phadke, Rahul, Quinlivan, Ros

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 877 KB

english, 2018

27

Cardiac Phenotype of Prehypertrophic Fabry Disease

Nordin, Sabrina, Kozor, Rebecca, Baig, Shanat, Abdel-Gadir, Amna, Medina-Menacho, Katia, Rosmini, Stefania, Captur, Gabriella, Tchan, Michel, Geberhiwot, Tarekegn, Murphy, Elaine, Lachmann, Robin, Ram

Journal:

Circulation Cardiovascular Imaging

Year:

2018

Language:

english

File:

PDF, 1.17 MB

english, 2018

28

Long-term efficacy of olipudase alfa in adults with acid sphingomyelinase deficiency (ASMD): Further clearance of hepatic sphingomyelin is associated with additional improvements in pro- and anti-atherogenic lipid profiles after 3.5 years of treatment

Thurberg, Beth L., Diaz, George A., Lachmann, Robin H., Schiano, Thomas, Wasserstein, Melissa P., Ji, Allena J., Zaher, Atef, Puga, Ana Cristina

Journal:

Molecular Genetics and Metabolism

Year:

2019

File:

PDF, 59 KB

2019

29

Pompe Disease Martina Beethmann, Volker Straub and Arnold Reuser 1st edition – Bremen – UNI-MED, 2008, 104 pages, ISBN 9781848151321 €44.80.

Robin H. Lachmann

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 116 KB

english, 2009

30

Mipomersen, a First-in-Class Apolipoprotein B Synthesis Inhibitor, Lowers Lipoprotein (a) in Patients with Homozygous Familial Hypercholesterolemia

William C. Cromwell, Raul D. Santos, Dirk J. Blom, David A. Marais, Robin H. Lachmann, Daniel Gaudet, Ju L. Tan, Scott Chasan-Taber, Diane L. Tribble, JoAnn Flaim, Frederick J. Raal, Min-Ji Charng

Journal:

Journal of Clinical Lipidology

Year:

2010

Language:

english

File:

PDF, 39 KB

english, 2010

31

Proposed stages of phenotype development in cardiac Fabry disease: A prospective 182-patient study by cardiovascular magnetic resonance

Nordin, Sabrina, Kozor, Rebecca, Baig, Shanat, Murphy, Elaine, Lachmann, Robin, Mehta, Atul, Edwards, Nicola C., Ramaswami, Uma, Steeds, Richard P., Hughes, Derralynn, Moon, James C.

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 73 KB

english, 2018

32

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

Lachmann, Robin H, Briddon, Anthony

Journal:

Practical Neurology

Year:

2016

Language:

english

File:

PDF, 554 KB

english, 2016

33

The subclinical phenotype of cardiac Fabry disease

Nordin, Sabrina, Kozor, Rebecca, Baig, Shanat, Tchan, Michel, Geberhiwot, Tarekegn, Murphy, Elaine, Lachmann, Robin H., Mehta, Atul, Edwards, Nicola C., Ramaswami, Uma, Steeds, Richard P., Hughes, Der

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 52 KB

english, 2018

34

Safety and efficacy of VAL-1221, a novel fusion protein targeting cytoplasmic glycogen, in patients with late-onset Pompe disease

Kishnani, Priya, Lachmann, Robin, Mozaffar, Tahseen, Walters, Crista, Case, Laura, Appleby, Matt, Libri, Vincenzo, Kak, Manisha, Wencel, Marie, Landy, Hal

Journal:

Molecular Genetics and Metabolism

Year:

2019

File:

PDF, 136 KB

2019

35

Improvement in renal cholesterol emboli syndrome after simvastatin

Robin G Woolfson, Helen Lachmann

Journal:

Year:

1998

Language:

english

File:

PDF, 57 KB

english, 1998

36

Fucosidosis: the UK experience reflecting the natural history of this rare disorder

Jameson, Elisabeth, Breen, Catherine, Broomfield, Alexander, Santra, Saikat, Pierre, Germaine, Lachmann, Robin, Stewart, Fiona, Tylee, Karen, Church, Heather, Vellodi, Ashok, Jones, Simon

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 163 KB

english, 2014

37

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

Wasserstein, Melissa P., Diaz, George A., Lachmann, Robin H., Jouvin, Marie-Hélène, Nandy, Indrani, Ji, Allena J., Puga, Ana Cristina

Journal:

Journal of Inherited Metabolic Disease

Year:

2018

Language:

english

File:

PDF, 2.96 MB

english, 2018

38

S3.16 Molecular and functional characterization of new pathogenic mutations in mitochondrial ornithine and aspartate/glutamate transporters

Giuseppe Fiermonte, Eleonora Paradies, Alessandra Tessa, Filippo M. Santorelli, Carlo Dionisi-Vici, Robin H. Lachmann, Ferdinando Palmieri

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2008

Language:

english

File:

PDF, 80 KB

english, 2008

39

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

LACHMANN, Robin H., EFSTATHIOU, Stacey

Journal:

Clinical Science

Year:

1999

Language:

english

File:

PDF, 237 KB

english, 1999

40

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

Sechi, Annalisa, Fabbro, Elisa, Langeveld, Mirjam, Tullio, Annarita, Lachmann, Robin, Mochel, Fanny

Journal:

Year:

2019

File:

PDF, 1.27 MB

2019

41

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

Manwaring, Victoria, Heywood, Wendy E., Clayton, Robert, Lachmann, Robin H., Keutzer, Joan, Hindmarsh, Peter, Winchester, Bryan, Heales, Simon, Mills, Kevin

Journal:

Journal of Proteome Research

Year:

2013

Language:

english

File:

PDF, 1.92 MB

english, 2013

42

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, Silvia, Sado, Daniel M, Maestrini, Viviana, Fontana, Marianna, White, Steven K, Treibel, Thomas, Captur, Gabriella, Anderson, Sarah, Piechnik, Stefan K, Robson, Matthew D, Lachmann, Robin H, Mur

Journal:

Journal of Cardiovascular Magnetic Resonance

Year:

2014

Language:

english

File:

PDF, 1.01 MB

english, 2014

43

One- and two-dimensional NMR investigations of the urinary excretion and metabolism of miglustat and valproate in patients with Niemann-Pick disease type C1

Grootveld, Martin, Probert, Fay, Ruiz-Rodado, Victor, Zhang, Xiaoyu, te Vruchte, Danielle, Platt, Frances, Clardige, Tim D., Tocchio, Anna Zonato, Edgar, Mark, Lachmann, Robin H.

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 52 KB

english, 2016

44

Extended treatment with VAL-1221, a novel protein targeting cytoplasmic glycogen, in patients with late-onset Pompe disease

Austin, Stephanie, Kishnani, Priya, Case, Laura, Lachmann, Robin, Appleby, Matt, Mozaffar, Tahseen, Avelar, Jenny, Wencel, Marie, Kak, Manisha, Landy, Hal

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 322 KB

2020

45

Independent Registries Are Cost-Effective Tools to Provide Mandatory Postauthorization Surveillance for Orphan Medicinal Products

Sirrs, Sandra M., Arthus, Marie-Francoise, Bichet, Daniel G., Rockman-Greenberg, Cheryl, LeMoine, Kaye, Morel, Chantal F., Lachmann, Robin, Lynd, Larry D., Wasim, Syed, West, Michael L., Hollak, Carla

Journal:

Value in Health

Year:

2020

File:

PDF, 773 KB

2020

46

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

Radha Ramachandran, Yehani Wedatilake, Caroline Coats, Fiona Walker, Perry Elliott, Philip J Lee, Robin H Lachmann, Elaine Murphy

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 128 KB

english, 2012

47

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

Frances M. Platt, Robin H. Lachmann

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 122 KB

english, 2009

48

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

van der Tol, Linda, Svarstad, Einar, Ortiz, Alberto, Tøndel, Camilla, Oliveira, João Paulo, Vogt, Liffert, Waldek, Stephen, Hughes, Derralynn A., Lachmann, Robin H., Terryn, Wim, Hollak, Carla E., Flo

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 365 KB

english, 2015

49

Miglustat: substrate reduction therapy for glycosphingolipid storage disorders

Lachmann, Robin H

Journal:

Year:

2005

Language:

english

File:

PDF, 237 KB

english, 2005

50

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

Hughes, Derralynn A, Nicholls, Kathleen, Shankar, Suma P, Sunder-Plassmann, Gere, Koeller, David, Nedd, Khan, Vockley, Gerard, Hamazaki, Takashi, Lachmann, Robin, Ohashi, Toya, Olivotto, Iacopo, Sakai

Journal:

Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 412 KB

english, 2017

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