https://orcid.org/0000-0003-4874-0334
Citations (11)
Keep up to date with the latest research on this topic with citation updates for this article.
Read on this site (6)
Katharina Buesch, Rongrong Zhang, Katarzyna Szczepańska, Vladica Veličković, Lucy Turner, Milena Despotović, Branka Đorđević & Alexis Russell. (2022) Burden and severity of disease of aromatic L-amino acid decarboxylase deficiency: a systematic literature review. Current Medical Research and Opinion 38:11, pages 1871-1882.
Read now
Read now
Mats Bergkvist, Carolyn Stephens, Traci Schilling, Antonia Wang, Xiaojin Yu, Elizabeth Goodwin, Lee Golden, Allan Kristensen & Matthew Klein. (2022) Aromatic L-amino acid decarboxylase deficiency: a systematic review. Future Neurology 17:4.
Read now
Read now
Samira Saberian, Philippa Rowan, Florence Hammes, Priya Patel, Fernando Fernandez-Cortes, Katharina Buesch & Igor Beitia Ortiz de Zarate. (2022) Burden of illness of aromatic L-amino acid decarboxylase deficiency: a survey of physicians in Southern Europe. Current Medical Research and Opinion 38:7, pages 1115-1123.
Read now
Read now
Sarah Acaster, Kate Williams, Hanna Skrobanski & Katharina Buesch. (2022) Using the EQ-5D to measure caregiver health-related quality of life in rare pediatric disease: a study in aromatic L-amino acid decarboxylase deficiency. Future Neurology 17:2.
Read now
Read now
Hanna Skrobanski, Kate Williams, Christian Werner, Sian O’Neill, Katharina Buesch & Sarah Acaster. (2021) The impact of caring for an individual with aromatic l-amino acid decarboxylase (AADC) deficiency: a qualitative study and the development of a conceptual model. Current Medical Research and Opinion 37:10, pages 1821-1828.
Read now
Read now
S. Birendra Kumar, Aishwarya Girish, Samruddhi Sutar, Suheeth Amberi Premanand, Vrinda Garg, Arvind Kumar Yadav, Rohit Shukla, T. P. Krishna Murthy & Tiratha Raj Singh. A computational study on structural and functional consequences of nsSNPs in human dopa decarboxylase. Journal of Biomolecular Structure and Dynamics 0:0, pages 1-15.
Read now
Read now
Articles from other publishers (5)
Agathe Roubertie, Irina Anselm, Bruria Ben‐Zeev, Wuh‐Liang Hwu, Ashutosh Kumar, Berrin Monteleone, Shin‐ichi Muramatsu, Vincenzo Leuzzi, Salvador Ibáñez, Scellig Stone & Phillip L. Pearl. (2024) Patient selection considerations for AADC deficiency gene therapy. Annals of the Child Neurology Society 2:1, pages 53-59.
Crossref
Crossref
Hui-Min Lee, Saadet Mercimek-Andrews, Gabriella Horvath, Diana Marchese, Richard E. PoulinIIIIII, Alexis Krolick, Kati-Lyn Tierney, Jasmine Turna, Judy Wei & Wuh-Liang Hwu. (2024) A position statement on the post gene-therapy rehabilitation of aromatic I-amino acid decarboxylase deficiency patients. Orphanet Journal of Rare Diseases 19:1.
Crossref
Crossref
Claire L. Simons, Wuh-Liang Hwu, Rongrong Zhang, Martijn J. H. G. Simons, Mats Bergkvist & Craig Bennison. (2023) 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 40:12, pages 5399-5414.
Crossref
Crossref
Kate Williams, Hanna Skrobanski, Katharina Buesch & Sarah Acaster. (2022) Symptoms and impacts of aromatic l-amino acid decarboxylase (AADC) deficiency among individuals with different levels of motor function. Orphanet Journal of Rare Diseases 17:1.
Crossref
Crossref
Nastassja Himmelreich, Riccardo Montioli, Sven F. Garbade, Jeffrey Kopesky, Sarah H. Elsea, Carla Carducci, Carla B. Voltattorni & Nenad Blau. (2022) Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations. Molecular Genetics and Metabolism 137:4, pages 359-381.
Crossref
Crossref