Medical Papers

Alpha-Mannosidosis

  • Psychiatric Symptoms in Alpha Mannosidosis: This paper is the result of a study of 45 patients with Alpha Mannosidosis by Dr. Dag Malm, MD, PhD. It is reprinted with permission of the Journal of Intellectual Disability Research.
  • Allogeneic SCT for Alpha Mannosidosis: This paper is the result of a multi-institutional analysis that describes 17 patients with Alpha Mannosidosis that were diagnosed at a median of 2.5 (1.1–23) years and underwent HSCT at a median of 3.6 (1.3–23.1)years. ISDMRD played a significant role in this project by ensuring that all Alpha Mannosidosis families whose children went through bone marrow transplant were able to take part in this study.

Mucolipidosis

Niemann-Pick type C

Pompe

Lysosomal Storage Diseases