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Our References

Homepage

  1. Learn about Fabry disease. Available at: http://fabrydisease.info/ (Accessed: 1 February 2017).
  2. What is Gaucher Disease? Available at: http://gaucherdisease.info/ (Accessed: 1 February 2017).
  3. DiscoverHAE. HAE symptoms. Available at: https://www.discoverhae.com/hereditary-angioedema-symptoms (Accessed: 1 February 2017).
  4. What is Hunter Syndrome? Available at: http://huntersyndrome.info/ (Accessed: 1 February 2017).
  5. What is short bowel syndrome? Available at: http://int.shortbowelsupport.com/patient/what-short-bowel-syndrome (Accessed: 1 February 2017).

Rare Diseases

  1. Learn about Fabry disease. Available at: http://fabrydisease.info/ (Accessed: 1 February 2017).
  2. What is Gaucher Disease? Available at: http://gaucherdisease.info/ (Accessed: 1 February 2017).
  3. DiscoverHAE. HAE symptoms. Available at: https://www.discoverhae.com/hereditary-angioedema-symptoms (Accessed: 1 February 2017).
  4. What is Hunter Syndrome? Available at: http://huntersyndrome.info/ (Accessed: 1 February 2017).
  5. What is short bowel syndrome? Available at: http://int.shortbowelsupport.com/patient/what-short-bowel-syndrome (Accessed: 1 February 2017).

Fabry Disease

  1. Learn about Fabry disease. Available at: http://fabrydisease.info/ (Accessed: 1 February 2017).
  2. Fabry disease diagnosis. Available at: http://fabrydisease.info/fabry-disease-diagnosis/ (Accessed: 1 February 2017).
  3. Learn about Fabry disease. Available at: http://fabrydisease.info/fabry-disease-symptoms/ (Accessed: 1 February 2017).
  4. Learn about Fabry disease. Available at: http://fabrydisease.info/fabry-disease-symptoms/ (Accessed: 1 February 2017).

Gaucher Disease

  1. What is Gaucher Disease?. Available at: http://gaucherdisease.info/ (Accessed: 1 February 2017).
  2. Understanding Gaucher genetics and inheritance. Available at: http://gaucherdisease.info/gaucher-disease-genetics/ (Accessed: 1 February 2017).
  3. Gaucher disease signs and symptoms. Available at: http://gaucherdisease.info/gaucher-disease-symptoms/ (Accessed: 1 February 2017).
  4. Gaucher disease signs and symptoms. Available at: http://gaucherdisease.info/gaucher-disease-symptoms/ (Accessed: 1 February 2017).
  5. Burrow TA, Barnes S, Grabowski GA. Prevalence and management of Gaucher disease. Pediatric Health, Medicine and Therapeutics 2011;2:59-73.
  6. Kerem M. Pulmonary function abnormalities in type 1 Gaucher disease. Eur Resp J 1996;9:340-345.
  7. HAS Sante Guide for Doctors: Long-Term Conditions. Gaucher Disease. National Diagnosis and Treatment Protocol. Hatue Autorite de Sante. 2007;1-45.
  8. Khan A, Hangartner T, Weinreb NJ, Taylor JS, Mistry PK. Risk factors for Fractures and Avascular Osteonecrosis in Type 1 Gaucher Disease: A Study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry. J Bone Miner Res 2012;27:1839-48.
  9. Mignot C, et al. handb Clin Neurol. 2013;113:1709-15..
  10. Nagral A. Gaucher disease. J Clin exp hepatol 2014;4(1):37-50.

Hereditary Angloedema

  1. DiscoverHAE. Hereditary angioedema causes. Available at: https://www.discoverhae.com/hereditary-angioedema-causes (Accessed: 1 February 2017).
  2. DiscoverHAE. What is HAE? Available at: https://www.discoverhae.com/what-is-hereditary-angioedema (Accessed: 1 February 2017).
  3. DiscoverHAE. HAE symptoms. Available at: https://www.discoverhae.com/hereditary-angioedema-symptoms (Accessed: 1 February 2017).
  4. DiscoverHAE. Living with HAE. Available at: https://www.discoverhae.com/living-with-hereditary-angioedema (Accessed: 1 February 2017).
  5. DiscoverHAE. HAE Diagnosis. Available at: https://www.discoverhae.com/hereditary-angioedema-diagnosis (Accessed: 1 February 2017).

Hunter Syndrome

  1. What is Hunter Syndrome? Available at: http://huntersyndrome.info/ (Accessed: 1 February 2017).
  2. Hunter syndrome symptoms. Available at: http://huntersyndrome.info/what-are-the-signs/ (Accessed: 1 February 2017).
  3. Hunter syndrome symptoms. Available at: http://huntersyndrome.info/what-are-the-signs/ (Accessed: 1 February 2017).
  4. Hunter syndrome symptoms. Available at: http://huntersyndrome.info/what-are-the-signs/ (Accessed: 1 February 2017).

Short Bowel Syndrome

  1. What is short bowel syndrome? Available at: http://int.shortbowelsupport.com/patient/what-short-bowel-syndrome (Accessed: 1 February 2017).
  2. What is short bowel syndrome? Available at: http://int.shortbowelsupport.com/patient/what-short-bowel-syndrome (Accessed: 1 February 2017).
  3. Hofstetter S, Stern L, Willet J. Key issues in addressing the clinical and humanistic burden of short bowel syndrome in the US. Curr Med Res Opin 2013;29(5):495–504.
  4. Jeppesen PB. Spectrum of short bowel syndrome in adults: intestinal insufficiency to intestinal failure. JPEN J Parenter Enteral Nutr 2014;38(1 Suppl):8S–13S.”
  5. Forms of SBS and long-term intestinal adaptation. Available at: http://int.shortbowelsupport.com/patient/forms-sbs-and-long-term-intestinal-adaptation (Accessed: 1 February 2017).

Hypoparathyroidism

  1. Bollerslev J, Rejnmark L, Marcocci C, et al. European Society of Endocrinology Clinical Guideline: Treatment of chronic hypoparathyroidism in adults. Eur J Endocrinol. 2015;173(2):G1-20.
  2. Underbjerg L, Sikjaer T, Mosekilde L, et al. Cardiovascular and renal complications to postsurgical hypoparathyroidism: a Danish nationwide controlled historic follow-up study. J Bone Miner Res. 2013;28(11):2277-85.
  3. Underbjerg L, Sikjaer T, Mosekilde L, et al. The Epidemiology of Nonsurgical Hypoparathyroidism in Denmark: A Nationwide Case Finding Study. J Bone Miner Res. 2015;30(9):1738-44.
  4. Clarke BL, Brown EM, Collins MT, et al. Epidemiology and Diagnosis of Hypoparathyroidism. J Clin Endocrinol Metab. 2016;101(6):2284-99.
  5. Powers J, Joy K, Ruscio A, et al. Prevalence and incidence of hypoparathyroidism in the United States using a large claims database. J Bone Miner Res. 2013;28(12):2570-6.
  6. Astor MC, Lovas K, Debowska A, et al. Epidemiology and Health-Related Quality of Life in Hypoparathyroidism in Norway. J Clin Endocrinol Metab. 2016;101(8):3045-53.
  7. Hadker N, Egan J, Sanders J, et al. Understanding the burden of illness associated with hypoparathyroidism reported among patients in the paradox study. Endocr Pract. 2014;20(7):671-9.
  8. Mitchell DM, Regan S, Cooley MR, et al. Long-term follow-up of patients with hypoparathyroidism. J Clin Endocrinol Metab. 2012;97(12):4507-14.
  9. Shoback DM, Bilezikian JP, Costa AG, et al. Presentation of Hypoparathyroidism: Etiologies and Clinical Features. J Clin Endocrinol Metab. 2016;101(6):2300-12.
  10. Levine MA. Normal mineral homeostasis. Interplay of parathyroid hormone and vitamin D. Endocr Dev. 2003;6:14-33.
  11. Hadker N, Egan J, Sanders J, et al. Understanding the burden of illness associated with hypoparathyroidism reported among patients in the paradox study. Endocr Pract. 2014;20(7):671-9.

Rare Disease Day

  1. Rare disease day 2017 – 28 Feb – article (2017) Available at: http://www.rarediseaseday.org/article/what-is-rare-disease-day (Accessed: 31 January 2017)

Fabry Awareness Month

  1. Fabry disease diagnosis. Available at: http://fabrydisease.info/fabry-disease-diagnosis/ (Accessed: 1 February 2017).

Gaucher Awareness Day

  1. What is Gaucher Disease? Available at: http://gaucherdisease.info/ (Accessed: 1 February 2017).

HAE Awareness Day

  1. DiscoverHAE. What is HAE? Available at:https://www.discoverhae.com/what-is-hereditary-angioedema (Accessed: 1 February 2017).

MPS Awareness Day

  1. NINDS. Mucopolysaccharidoses Fact Sheet. National Institutes of Health. 2015.
  2. White KK. Mucopolysaccharidoses: Etiology, Classification, Deformities Unique to Each Type, Treatment Modalities and Indications for Surgical Intervention. Spine Deform. 2012: Sept; 114–118.
  3. Muenzer J. Overview of the mucopolysaccharidoses. Rheumatol. Oxf. Engl. 50 (5): v4–12.
  4. Muenzer J. Overview of the mucopolysaccharidoses. Rheumatol. Oxf. Engl. 50 (5): v4–12.

The Society for the Study of Inborn Errors of Metabolism (SSIEM) Conference

  1. Fleischman A et al. Systematic Data Collection to Inform Policy Decisions: Integration of the Region 4 Stork (R4S) Collaborative Newborn Screening Database to Improve MS/MS Newborn Screening in Washington State. JIMD Rep. 2014; 13: 15–21.
  2. McHugh DMS et al. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project. Genet Med 2011; 13: 230–254.

Dr Auray-Blais on MPS and the Future of Rare Metabolic Disease Therapy

  1. Muenzer J. Overview of the mucopolysaccharidoses. Rheumatol. Oxf. Engl. 50 (5): v4–12.

Our Fabry Family

  1. Vanier MT and Caillaud C. Disorders of Sphingolipid Metabolism and Neuronal Ceroid-Lipofuscinoses. In: Saudubray J-M, et al. (Editors). Inborn Metabolic Diseases. 5th edition, 2012. Springer Berlin, Heidelberg.
  2. Laney DA, et al. Diagnosis of Fabry disease via analysis of family history. J Genet Couns. 2008;17:79-83.

European Symposium on Lysosomal Storage Disorders (ESLSD)

  1. NORD. Lysosomal storage disorders. Available at: https://rarediseases.org/rare-diseases/lysosomal-storage-disorders/ (Accessed: 1 February 2017).
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