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Educational Resources

The following links are provided as additional information resources:

American Journal of Medical Genetics publishes original research and reviews relevant to medical genetics, including the clinical manifestations of genetic disorders.

Clinical Genetics emphasizes research related to molecular approaches to genetic disease. It also covers the social, ethical, and psychological aspects of human genetics.

ClinicalTrials.gov provides regularly updated information about federally and privately supported clinical research in human volunteers.

European Journal of Human Genetics is the official publication of the European Society of Human Genetics and publishes articles relevant to the development of research, education, and medical application in the field of human genetics.

European Journal of Pediatrics is the official journal of the Belgian Pediatric Association.

Genetic Education Center contains information on genetic conditions and birth defects.

Genetics in Medicine is the official journal of the American College of Medical Genetics providing journal articles and information about the organization and its policies.

Human Mutation publishes articles that cover broad aspects of mutation research.

Investigative Ophthalmology & Visual Science is the official journal of the association for the research in Vision and Ophthalmology.

The Journal of Clinical Investigation publishes original articles pertaining to the genetic, molecular, cellular, or physiological basis of human biology and disease.

Journal of Inherited Metabolic Disease is the Journal of the Society for the Study of Inborn Errors of Metabolism, covering all aspects of inherited metabolic disorders in man and higher animals.

Journal of Pediatric Orthopedics publishes on the diagnosis and treatment of pediatric orthopedic disorders.

Journal of Pediatrics provides information on pediatrics related fields, including nutrition, surgery, dentistry, child health services, human genetics, psychology, education, and sociology.

Lancet offers journal article information.

Lysosomallearning.com An online resource on lysosomal storage disorders.

Medlineplus Health Information is an extensive database containing information on over 500 diseases and conditions.

Molecular Genetics and Metabolism covers fundamental investigations of the pathogenesis of inherited and acquired disorders.

The National Center for Biotechnology Information (NCBI) is a searchable website of genetic diseases.

National Institutes of Health Office of Rare Diseases (ORD) provides information on more than 6000 rare diseases, including current research, publications from scientific and medical journals, completed research, ongoing studies, and patient support groups.

The National Organization for Rare Disorders (NORD) provides information and databases regarding rare diseases.

New England Journal of Medicine presents major reports of clinical research, review articles, opinion, and policy updates.

Online Mendelian Inheritance in ManTM (OMIMTM) contains descriptions of MPS I diseases and links to research papers.

PubMed is a search service of the National Medical Library; it includes links to many sites providing full text articles and other related resources.

Did you know...
Genetic counselors are health professionals who are trained to help families understand genetic disorders such as MPS I disease. A genetic counselor can help you determine if you are a carrier of a gene defect that causes MPS I and can provide valuable information and support for family planning. Visit the European Society of Human Genetics or the National Society of Genetic Counselors to learn more.
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Alicia is a 16-year-old with MPS I who was diagnosed 10 years ago. Watch Alicia’s story to find out how she is handling life as a teenager living with MPS I.
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