1Heese BA. Current strategies in the management of lysosomal storage diseases. Semin Pediatr Neurol 2008;15:119-26.
2Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 1999;281:249-54.
3Peters C, Steward CG; National Marrow Donor Program; International Bone Marrow Transplant Registry; Working Party on Inborn Errors, European Bone Marrow Transplant Group. Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines. Bone Marrow Transplant 2003;31:229-39.
4Bulbul FS, Dursun O, Dursun ZE. Kırıkkale’de Çalışan Hekimlerin Fabry Hastalığı ve Kalıtsal Metabolizma Hastalıkları Konusunda Farkındalık Durumu. J LSD 2012;4:1-8.
5Elliott E, Zurynski Y. Rare diseases are a ‘common’ problem for clinicians. Aust Fam Physician 2015;44:630-3.
6Groft SC. Rare diseases: identifying needs. Report of the National Commission on Orphan Diseases. Am Pharm 1990;30:33-40.
7Kishnani PS, Amartino HM, Lindberg C, et al. Pompe Registry Boards of Advisors. Timing of diagnosis of patients with Pompe disease: data from the Pompe registry. Am J Med Genet A 2013;161:2431-43.
8Knight AW, Senior TP. The common problem of rare disease in general practice. Med J Aust 2006;185:82-3.
9Lisi EC, Gillespie S, Laney D, Ali N. Patients’ perspectives on newborn screening for later onset lysosomal storage diseases. Mol Genet Metab 2016;119:109-14.
10Matern D, Oglesbee D, Tortorelli S. Newborn screening for lysosomal storage disorders and other neuronopathic conditions. Dev Disabil Res Rev 2013;17:247-53.
11Meikle PJ, Grasby DJ, Dean CJ, et al. Newborn screening for lysosomal storage disorders. Mol Genet Metab 2006;88:307-14.
12Phillips WR. Zebras on the common: rare conditions in family practice. J Am Board Fam Pract 2004;17:283-6.
13MacIntyre FL. One in a million: when extraordinary cases occur in an ordinary practice. J Fam Pract 1993;36:17-8.
14Kirby T. Australia makes up for lost time on rare diseases. Lancet 2012;379:1689-90.
15Zurynski Y, Frith K, Leonard H, Elliott E. Rare childhood diseases: How should we respond? Arch Dis Child 2008;93:1071-4.