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51

Issues with European guidelines for phenylketonuria

Burgard, Peter, Ullrich, Kurt, Ballhausen, Diana, Hennermann, Julia B, Hollak, Carla E M, Langeveld, Mirjam, Karall, Daniela, Konstantopoulou, Vassiliki, Maier, Esther M, Lang, Frauke, Lachmann, Robin

Journal:

The Lancet Diabetes & Endocrinology

Year:

2017

Language:

english

File:

PDF, 68 KB

english, 2017

52

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

53

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

54

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

55

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

56

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

57

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

58

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

59

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

60

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

61

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

62

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

63

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

64

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

65

Editorial

Lachmann, Robin, Hollak, Carla

Journal:

Journal of Inherited Metabolic Disease

Year:

2018

File:

PDF, 277 KB

2018

66

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

67

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 42Â months of treatment

Thurberg, Beth L., Diaz, George A., Lachmann, Robin H., Schiano, Thomas, Wasserstein, Melissa P., Ji, Allena J., Zaher, Atef, Peterschmitt, M. Judith

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 1.21 MB

2020

68

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

69

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

70

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