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Informational Resources

4 May, 2023
MPS Diagnostic LaboratoriesA listing of laboratories in the US that provide diagnostic testing of MPS diseases through enzyme orfibroblast analysis.
MPS Genetic CentersA listing of genetic centers in the US that provide diagnostic, treatment, and genetic counseling services.
Genetics Home ReferenceGenetics Home Reference: Your Guide to Understanding Genetic Conditions. Includes basic information about genetics in clear language and links to online resources.
The Children’s Medical Research Foundation, Inc.An organization formed to find a cure for Sanfilippo Syndrome.
Online Mendelian Inheritance In MannFollow this link to their Search Engine to query the current medical knowledge on each of the MPS diseases.
HealthFinder:Your guide to reliable health information
Genetic AllianceAn international coalition of consumer and health professional organizations that supports individuals with genetic conditions and their families, educates the public and advocates for consumer-informed public policies.
Genetic and Rare Diseases Information Center:information on more than 6000 rare diseases, including current research, publications from scientific and medical journals, completed research, ongoing studies, and patient support groups
N.O.R.D (National Organization for Rare Diseases)Unique federation of voluntary health organizations dedicated to helping people with rare “orphan” diseases and assisting the organizations that serve them. NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.
PubMedA service of the National Library of Medicine, provides access to over 26 million MEDLINE citations back to the mid-1960’s and additional life science journals. PubMed includes links to many sites providing full text articles and other related resources.
BioMarinBioMarin develops enzyme therapies for serious, life-threatening diseases and conditions. They are committed to improving the lives of patients by developing novel enzyme therapies for currently unmet medical needs.
Sanofi GenzymeSanofi Genzyme is the specialty care global business unit of Sanofi, focused on rare diseases, multiple sclerosis, immunology, and oncology. We help people with debilitating and complex conditions that are often difficult to diagnose and treat. We are dedicated to discovering and advancing new therapies, providing hope to patients and their families around the world.
International Society for Mannosidosis and Related Diseases (ISMRD)ISMRD is an internationally focused nonprofit organization whose mission is to advocate for families and patients affected by one of the Glycoprotein Storage Diseases.
Shire PharmaceuticalTakeda is a rapidly growing global specialty pharmaceutical company. At Takeda, we are champions for people around the world who are struggling with rare diseases – they are at the center of everything we do.
Little People of America:lLittle People of America, Inc., is a nonprofit organization that provides support and information to people of short stature and their families.
The Ryan FoundationThe Ryan Foundation is a 501(c)(3) non-profit, all-volunteer organization dedicated to supporting research for, and the families of, those suffering from Mucopolysaccharidosis, or MPS. was created to provide information regarding MPS I to patients, families, caregivers, and health care professionals. Here you will find information about the disease, support programs and online resources to manage the challenges associated with MPS I.
Aldurazyme.comThe links and information on this website are provided by Genzyme as a resource for information for the treatment of individuals with MPS I.
Hunterpatients.comThe links and information on this website are provided by Shire. It is a resource center for the MPS II community to access information about the genetics, diagnosis and management of MPS II as well as information about the drug development process.
Lysosomal Disease NetworkThe Lysosomal Disease Network is a research consortium of scientists, laboratories, healthcare professionals and clinics working as networked centers of excellence to improve basic knowledge and understanding of lysosomal disorders, improve diagnosis, and advance therapeutic options for individuals affected by these disorders.
MPSVI.comProvides education and information about MPS VI for families, educators, and healthcare providers.
Johns Hopkins LSD CenterJohns Hopkins Lysosomal Storage Disease Program is committed to offering comprehensive and personal clinical care for patients with lysosomal storage diseases. The LSD program provides diagnosis, management, treatment and monitoring of diverse treatments available for patients affected with LSD including enzyme replacement therapy, small molecule therapies, hematopoietic stem cell therapy and others.
Transitions: Managing Your Own Healthcare – What Every Teen with an LSD Needs to KnowThis book is intended to help families successfully manage the transition from childhood to adulthood in terms of learning how to take over your own healthcare management and living with a lysosomal storage disease. Please share it with any MPS teens, preteens, and parents!
Jonah’s Just BegunRaises funds and then distributes them to academic researchers focused on Sanfilippo Type C. We have two goals: first, to drive the science that will ultimately lead to a cure for Sanfilippo Type C; and second, to raise awareness for all rare diseases. We also empower and encourage others affected by rare diseases to advocate for cures.