Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy.

There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

Abstract

Enzyme replacement therapy (ERT) for infantile-onset Pompe disease has been commercially available for almost 10 years. We report the experience of its use in a cohort treated at three specialist lysosomal treatment centres in the UK.

Related collections

Author and article information

Journal

Journal ID (iso-abbrev): J. Inherit. Metab. Dis.

Title: Journal of inherited metabolic disease

Publisher: Springer Nature America, Inc

ISSN (Electronic): 1573-2665

ISSN (Print): 0141-8955

Publication date (Electronic): Mar 2016

Volume: 39

Issue: 2

Affiliations

[1 ] Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospital Foundation Trust, Oxford Road, Manchester, UK. alexander.broomfield@cmft.nhs.uk.

[2 ] Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospital Foundation Trust, Oxford Road, Manchester, UK.

[3 ] Metabolic Medicine Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

[4 ] Cardiology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

[5 ] Department of Paediatric Cardiology, Birmingham Children's Hospital, Steelhouse Lane, Birmingham, UK.

[6 ] Regional Genetics Laboratories, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

[7 ] Enzyme Unit, Chemical Pathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

[8 ] Department of Inherited Metabolic Disorders, Birmingham Children's Hospital, Steelhouse Lane, Birmingham, UK.

[9 ] Department of Inherited Metabolic Disease, Guy's and St Thomas' NHS Foundation Trusts, Evelina London Children's Hospital, Westminster Bridge Road, London, UK.

Article

Publisher Item ID: 10.1007/s10545-015-9898-5

DOI: 10.1007/s10545-015-9898-5

PubMed ID: 26497565

SO-VID: faf0ae80-0667-444b-8355-1899c0f37846

History

Data availability:

Comments

Comment on this article

scite_

Cited by 25

See all cited by