ISMRDThe ISMRD Library
ISMRD's Library is open 24/7 for our visitors to read information online or to download to their own computer for their permanent records. Please check back often as we add new material and resources to our collection.
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A. ISMRD Organizational Documents
| Document Name | Format | Description |
|---|---|---|
| US Internal Revenue Service 501 (c)(3) Determination Letter |  |
Certification of ISMRD's charity status in the United States: April 6, 2004. |
| Bylaws | |
ISMRD's Organizational Bylaws created in March 1999. |
B. Glycoprotein Storage Disease Fact Sheets & Publications
| Document Name | Format | Description |
|---|---|---|
| Biphosphonate Therapy In Mucolipidosis | |
Publication relating the potential benefits of Biphosphonates for treating Mucolipidosis. Written by Prof. David Sillence, MD FRACP |
| Intravenous Pamidronate Treatment in Mucolipidosis II/III |  |
This informative article by Jenny Noble, mother of two children with ML III, addresses many of the salient points about this emerging therapy for Mucolipidosis. |
| Pamidronate Infusion Guidelines for ML | |
Instructions on administering Pamidronate authored by Prof. David Sillence. |
| Medical Alert for Parents of Children with I-Cell Disease | |
Important information from the Greenwood Genetic Clinic regarding anasthesia in children with Mucolipidosis II |
| Osteodystrophy of Mucolipidosis Type III | |
A published paper detailing a study conducted on two New Zealand children using Pamidronate as a therapy for Mucolipidosis. Co-written by Jenny Noble, a member of ISMRD's Board of Directors and Prof. David Sillence, MD FRACP. |
| 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 author and the Journal of Intellectual Disability Research. |
| Sarah's Journey With ML III | |
The story of how one young lady has coped with her diagnosis. |
| Feeding and Nutrition in Children with ML2 | |
Suggestions for feeding a child with I-Cell Disease – A family experience. |
| Mucolipidosis III Gamma | |
This paper outlines the natural history of mucolipidosis gamma patients. |
| Natural History and Osteodystrophy of MLII and III | |
This paper is the result of a study done on 25 patients with ML II and ML III to assess the natural history and impact of the secondary bone disease observed in patients with mucolipidosis (ML II and ML III). |
| 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. |