Page 26 - Demo
P. 26


                                    Chapter 12470. Zeltner NA, Baumgartner MR, Bondarenko A, et al. Development and psychometric evaluation of the metabQoL 1.0: A quality of life questionnaire for paediatric patients with intoxicationtype inborn errors of metabolism. In: JIMD Reports. 2017.71. Zöllner JP, Conradi N, Sauter M, et al. Quality of life and its predictors in adults with tuberous sclerosis complex (TSC): a multicentre cohort study from Germany. Neurol. Res. Pract. 2021;3(1).72. Gaasterland CMW, Jansen-van der Weide MC, Vroom E, et al. The POWER-tool: Recommendations for involving patient representatives in choosing relevant outcome measures during rare disease clinical trial design. Health Policy (New. York). 2018.73. Gaasterland CMW, Van Der Weide MCJ, Roes KCB, Van Der Lee JH. Goal attainment scaling as an outcome measure in rare disease trials: A conceptual proposal for validation. BMC Med. Res. Methodol. 2019.74. Pekeles H, Accogli A, Boudrahem-Addour N, et al. Diagnostic Yield of Intellectual Disability Gene Panels. Pediatr. Neurol. 2019;92.75. Wang J, Wang Y, Wang L, et al. The diagnostic yield of intellectual disability: Combined whole genome low-coverage sequencing and medical exome sequencing. BMC Med. Genomics 2020;13(1).76. Blau N, Dionisi Vici C, Ferreira CR, et al. Correction to: Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. In: Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. 2022.77. Kotulska K, Kwiatkowski DJ, Curatolo P, et al. Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial. Ann. Neurol. 2021;89(2).78. Krueger DA, Wilfong AA, Holland-Bouley K, et al. Everolimus treatment of refractory epilepsy in tuberous sclerosis complex. Ann. Neurol. 2013;74(5).79. van Karnebeek CDM, Jaggumantri S. Current Treatment and Management of PyridoxineDependent Epilepsy. Curr. Treat. Options Neurol. 2015;17(2).80. Savatt JM, Myers SM. Genetic Testing in Neurodevelopmental Disorders. Front. Pediatr. 2021;981. Baker K, Raymond FL, Bass N. Genetic investigation for adults with intellectual disability: Opportunities and challenges. Curr. Opin. Neurol. 2012;25(2).82. Rojnueangnit K, Anthanont P, Khetkham T, et al. Genetic diagnosis for adult patients at a genetic clinic. Cold Spring Harb Mol Case Stud 2022;8(7):a006235.83. Strydom A, Coppus A, Blesa R, et al. Alzheimer’s disease in Down syndrome: An overlooked population for prevention trials. Alzheimer’s Dement. Transl. Res. Clin. Interv. 2018;4.Annelieke Muller sHL.indd 24 14-11-2023 09:07
                                
   20   21   22   23   24   25   26   27   28   29   30