Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

Keynote webinar | Spotlight on medication adherence

LIVE: Thursday 27th June 2024, 18:00-19:30 (CEST)
Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.
ADVANCED SEARCH
Log in
Top
Journal of Inherited Metabolic Disease
Published in: Journal of Inherited Metabolic Disease 3/2009

01-06-2009 | Letter to the Editor

Response to Torralba and Pérez-Calbo

Authors: C. Fairley, A. Zimran, M. Phillips, M. Cizmarik, J. Yee, N. Weinreb, S. Packman

Published in: Journal of Inherited Metabolic Disease | Issue 3/2009

Login to get access

Excerpt

We thank Drs Torralba and Pérez-Calbo for their interest in our work, for their understanding of the importance of the identification of a relatively severe N370S homozygosity subgroup, and for their comments and suggestions (Torralba & Pérez-Calvo 2009). …
Literature
Torralba MA, Alfonso P, Pérez-Calvo JI, et al (2002) High prevalence of the 55-bp deletion (c.1263del55) in exon 9 of the glucocerebrosidase gene causing misdiagnosis (for homozygous N370S (c.1226A>G) mutation) in Spanish Gaucher Disease patients. Blood Cells Mol Dis 29 35–40 doi:10.​1006/​bcmd.​2002.​0535 PubMedCrossRef
Metadata
Title
Response to Torralba and Pérez-Calbo
Authors
C. Fairley
A. Zimran
M. Phillips
M. Cizmarik
J. Yee
N. Weinreb
S. Packman
Publication date
01-06-2009
Publisher
Springer Netherlands
Published in
Journal of Inherited Metabolic Disease / Issue 3/2009
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI
https://doi.org/10.1007/s10545-009-9963-z

Other articles of this Issue 3/2009

Journal of Inherited Metabolic Disease 3/2009 Go to the issue

Letter to the Editor

Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease

Symposium on Neurotransmitter Disorders

Disorders of biopterin metabolism

Symposium on Neurotransmitter Disorders

Consideration of gene therapy for paediatric neurotransmitter diseases

Original Article

Abnormal tricarboxylic acid cycle metabolites in isovaleric acidaemia

Original Article

Negative screening tests in classical galactosaemia caused by S135L homozygosity

Symposium on Neurotransmitter Disorders

Neuroimaging findings in children with paediatric neurotransmitter diseases
Live Webinar | 27-06-2024 | 18:00 (CEST)

Keynote webinar | Spotlight on medication adherence

Reserve your place

Live: Thursday 27th June 2024, 18:00-19:30 (CEST)

WHO estimates that half of all patients worldwide are non-adherent to their prescribed medication. The consequences of poor adherence can be catastrophic, on both the individual and population level.

Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.

Prof. Kevin Dolgin
Prof. Florian Limbourg
Prof. Anoop Chauhan
Developed by: Springer Medicine
Obesity Clinical Trial Summary

At a glance: The STEP trials

Read more

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.

Developed by: Springer Medicine

Highlights from the ACC 2024 Congress

Year in Review: Pediatric cardiology

Pediatric Cardiology Video

Watch Dr. Anne Marie Valente present the last year's highlights in pediatric and congenital heart disease in the official ACC.24 Year in Review session.

Year in Review: Pulmonary vascular disease

Cardiopulmonary Comorbidity Video

The last year's highlights in pulmonary vascular disease are presented by Dr. Jane Leopold in this official video from ACC.24.

Year in Review: Valvular heart disease

Valvular Heart Disease Video

Watch Prof. William Zoghbi present the last year's highlights in valvular heart disease from the official ACC.24 Year in Review session.

Year in Review: Heart failure and cardiomyopathies

Heart Failure Video

Watch this official video from ACC.24. Dr. Biykem Bozkurt discusses last year's major advances in heart failure and cardiomyopathies.

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Heart Failure Video

Watch this official video from ACC.24. Dr. Biykem Bozkurt discusses last year's major advances in heart failure and cardiomyopathies.

Watch now

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

16-04-2024 Type 2 Diabetes News

Incentivised to exercise

11-04-2024 Lifestyle Modifications News

New intervention for STEMI-related cardiogenic shock

10-04-2024 Myocardial Infarction News

» View more highlights on the ACC 2024 congress hub page

Image Credits