https://orcid.org/0000-0003-4874-0334
References
- Wassenberg T, Molero-Luis M, Jeltsch K, et al. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Orphanet J Rare Dis. (1)2017;12:12.
- 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.
- Hyland K, Reott M. Prevalence of aromatic L-amino acid decarboxylase deficiency in at-risk populations. Pediatr Neurol. 2020;106:38–42.
- Chien YH, Chen PW, Lee NC, et al. 3-O-methyldopa levels in newborns: result of newborn screening for aromatic L-amino-acid decarboxylase deficiency. Mol Genet Metab. (4)2016;118:259–263.
- Pearson TS, Gilbert L, Opladen T, et al. AADC deficiency from infancy to adulthood: symptoms and developmental outcome in an international cohort of 63 patients. J Inherit Metab Dis. 2020;43(5):1121–1130.
- Brun L, Ngu LH, Keng WT, et al. Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. Neurology. (1)2010;75:64–71.
- Fusco C, Leuzzi V, Striano P, et al. Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus. Ital J Pediatr. 2021;47(1):13.
- Physiotherapy for AADC Deficiency [Internet]. AADC News; 2019 [cited 2021 Mar 1]. Available from: https://aadcnews.com/physiotherapy-for-aadc-deficiency/.
- A single-stage, adaptive, open-label, dose escalation safety and efficacy study of AADC deficiency in pediatric patients (AADC). [Internet]. 2018 [cited 2021 Mar 22]. Available from: https://clinicaltrials.gov/ct2/show/NCT02852213?cond=AADC+Deficiency&draw=1&rank=1.
- Hwu WL, Muramatsu SI, Tseng SH, et al. Gene therapy for aromatic L-amino acid decarboxylase deficiency. Sci Transl Med. 2012;4(134):134ra61.
- Chien YH, Lee NC, Tseng SH, et al. Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial. Lancet Child Adolesc Heal. 2017;1(4):265–273.
- Kojima K, Nakajima T, Taga N, et al. Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency. Brain. 2019;142(2):322–333.
- Barow E, Schneider SA, Bhatia KP, et al. Oculogyric crises: etiology, pathophysiology and therapeutic approaches. Parkinsonism Relat Disord. 2017;36:3–9.
- Hanbury A, Smith AB, Buesch K. Deriving vignettes for the rare disease AADC deficiency using parent, caregiver and clinician interviews to evaluate the impact on health-related quality of life. Patient Relat Outcome Meas. 2021;12:1–12.
- Bowen GA. Naturalistic inquiry and the saturation concept: a research note. Qual Res. 2008;8(1):137–152.
- Kerr C, Nixon A, Wild D. Assessing and demonstrating data saturation in qualitative inquiry supporting patient-reported outcomes research. Expert Rev Pharmacoecon Outcomes Res. 2010;10(3):269–281.
- AADCd Symptom Questionnaire. [Internet]. AADC Research Trust. [cited 2021 Mar 2]. Available from: https://www.aadcresearch.org/aadcd-symptom-questionnaire.