71 Chapter 3 References 1. Steiner RD, Basel D. COL1A1/2 Osteogenesis Imperfecta. (Updated 2019 Dec 12). In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® (Internet). Seattle (WA): University of Washington, Seattle; 2005. p. 1993– 2019. 2. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979;16:101–16. 3. Van Dijk FSS, Sillence DOO. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet Part A. 2014;164: 1470–81. 4. Rauch F, Glorieux F. Ostegenesis Imperfecta. Lancet. 2004;363(9418):1377– 85. 5. Glorieux FH. Osteogenesis imperfecta. Best Pract Res Clin Rheumatol. 2008; 22:85–100. 6. Van Dijk FS, Byers PH, Dalgleish R, Malfait F, Maugeri A, Rohrbach M, Symoens S, Sistermans EA, Pals G. EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta. Eur J Hum Genet. 2012;(1): 11–9. 7. Hill CL, Baird WO, Walters SJ. Quality of life in children and adolescents with Osteogenesis Imperfecta: a qualitative interview based study. Health Qual Life Outcomes. 2014;12:54. 8. Tosi LL, Oetgen ME, Floor MK, Huber MB, Kennelly AM, McCarter RJ, Rak MF, Simmonds BJ, Simpson MD, Tucker CA, McKiernan FE. Initial report of the osteogenesis imperfecta adult natural history initiative. Orphanet J Rare Dis. 2015;10: 146. 9. Arponen H, Waltimo-Sirén J, Valta H, Mäkitie O. Fatigue and disturbances of sleep in patients with osteogenesis imperfecta - A cross-sectional questionnaire study. BMC Musculoskelet Disord. 2018;19(1):3. 10. Van Brussel M, Takken T, Uiterwaal CSPM, Pruijs HJ, Van der Net J, Helders PJM, Engelbert RHH. Physical Training in Children with Osteogenesis Imperfecta. J Pediatr. 2008;152:111–6 e1. 11. Finsterer J, Mahjoub SZ. Fatigue in healthy and diseased individuals. Am J Hosp Palliat Med. 2014;31:562–75. 12. Dittner AJ, Wessely SC, Brown RG. The assessment of fatigue: a practical guide for clinicians and researchers. J Psychosom Res. 2004;56:157–70. 13. Whitehead L. The measurement of fatigue in chronic illness: a systematic review of unidimensional and multidimensional fatigue measures. J Pain Symptom Manag. 2009;37:107–28. 14. Krupp LB, Larocca NG, Muir Nash J, Steinberg AD. The fatigue severity scale: Application to patients with multiple sclerosis and systemic lupus erythematosus. Arch Neurol. 1989;46(10):1121–3.
RkJQdWJsaXNoZXIy MTk4NDMw