Symptoms and impact of aromatic l-amino acid decarboxylase (AADC) deficiency: a qualitative study and the development of a patient-centred conceptual model-Reference-Cited by-同舟云学术

Symptoms and impact of aromatic l-amino acid decarboxylase (AADC) deficiency: a qualitative study and the development of a patient-centred conceptual model

Published:2021-06-07 Issue:8 Volume:37 Page:1353-1361
ISSN:0300-7995
Container-title:Current Medical Research and Opinion
language:en
Short-container-title:Current Medical Research and Opinion

Author:

Williams Kate¹^ORCID,Skrobanski Hanna¹^ORCID,Werner Christian²,O’Neill Sian³,Buesch Katharina⁴,Acaster Sarah¹

Affiliation:

1. Patient-Centred Outcomes Research, Acaster Lloyd Consulting Ltd, London, UK

2. Global Medical Affairs, PTC Therapeutics Germany GmbH, Frankfurt am Main, Germany

3. Patient Engagement EMEA, PTC Therapeutics International Limited, Dublin, Ireland

4. Global Health Economics and Outcomes Research, PTC Therapeutics Switzerland GmbH, Steinhausen/Zug, Switzerland

Funder

PTC Therapeutics International Ltd.

Publisher

Informa UK Limited

Subject

General Medicine

Link

https://www.tandfonline.com/doi/pdf/10.1080/03007995.2021.1932449

Reference17 articles.

1. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

2. Whitehead N, Schu M, Erickson SW, et al. Estimated prevalence of aromatic l-amino acid decarboxylase (AADC) deficiency in the United States, European Union, and Japan. Proceedings of the Poster session resented at: Annual Congress of the European Society Gene and Cell Therapy; 2018 Oct 16–19; Lausanne.

3. Prevalence of Aromatic l-Amino Acid Decarboxylase Deficiency in At-Risk Populations

4. 3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency

5. AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients

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4. Long-Term Outcomes of Eladocagene Exuparvovec Compared with Standard of Care in Aromatic l-Amino Acid Decarboxylase (AADC) Deficiency: A Modelling Study;Advances in Therapy;2023-10-06

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