- 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.
- 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. ISMRD 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.
- Preclinical Dose-Finding Study with a Liver-Tropic Recombinant AAV-2/8 Vector in the Mouse Model of Galactosialidosis
- Missense Mutations in N-Acetylglucosamine-1- Phosphotransferase a/b Subunit Gene in a Patient With Mucolipidosis III and a Mild Clinical Phenotype
- Osteodystrophy of Mucolipidosis III: A published paper detailing a study conducted on two New Zealand children using Pamidronate as a therapy for Mucolipidosis. Co-authored by Jenny Noble, a member of ISMRD's Board of Directors and Prof. David Sillence, MD FRACP, Sydney, Australia.
- Intravenous Pamidronate Treatment in Mucolipidosis: This informative article by Jenny Noble, mother of two children with ML III, addresses many of the important points about this emerging therapy for Mucolipidosis.
- Pamidronate Infusion Guidelines for ML: Instructions on administering Pamidronate authored by Prof. David Sillence.
- A novel intermediate mucolipidosis II/III alpha/beta caused by GNPTAB mutation in the cytosolic N-terminal domain
- Excessive activity of cathepsin K is associated with cartilage defects in a zebrafish model of mucolipidosis II
- Moclecular order of Mucolipidosis II and III Nomenclature: This is a wonderful description by the authors who are the authority on these diseases and related lysosomal diseases. Their description of ML II alpha/beta and ML III alpha/beta highlights the fact that both are caused by mutations in the same gene, with the difference in onset and progression of the disease dependent on the particular type of mutation.
Medical Alert for parents of Children with I-Cell Disease: Important information from the Greenwood Genetic Clinic regarding anesthesia in children with Mucolipidosis II
- Feeding and Nutrition in children with ML II alpha/beta suggestions for feeding a child with I-Cell Disease - A family experience.
- Mucolipidosis III Gamma: This paper outlines the natural history of mucolipdiosis gamma patients.
Sialidosis – also known as Mucolipidosis I
- The therapeutic potential of pharmacological chaperones and proteosomal inhibitors, Celastrol and MG 132 in the treatment of Sialidosis.
- Transient Secondary Neonatal Hyperparathyroidism: A Presenting Feature of Sialidosis Type II