Sanofi Rare Diseases Medical
ASMD
Acid Sphingomyelinase Deficiency Disease Overview
A slide deck providing a summary overview of ASMD epidemiology, genetics, pathophysiology, and disease manifestations.
Lung and Liver Manifestations of ASMD
An infographic summarizing the lung and liver manifestations of ASMD.
Genetic Testing and Genetic Counseling:
This clinical monograph summarizes the insights and real-world best practices collected during an Advisory Council Meeting on genetic testing and genetic counseling held in August 2022 with experienced practice providers from across the United States.
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Lysosomal Storage Disease Biomarkers:
This clinical monograph summarizes the insights and real-world best practices collected during an Advisory Council Meeting on obtaining and evaluating biomarkers for lysosomal storage disorders held in August 2023 with experienced practice providers from across the United States.
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ASMD and Gaucher Disease Diagnosis
For more information on diagnosing ASMD, including a list of labs offering SMPD1 gene sequencing or acid sphingomyelinase enzyme activity assay, review this short brochure.
This is not an exhaustive list of labs, or an endorsement of any one lab. Other testing options can be found at https://www.concertgenetics.com (free login required) or https://www.ncbi.nlm.nih.gov/gtr. Sanofi does not review or control the content of non-Sanofi websites. These listings do not constitute an endorsement by Sanofi of information provided by any other organizations. Tests may not be available in all states. Please contact the laboratory to confirm test availability, sample shipping information, and all other logistics.
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Acid Sphingomyelinase Deficiency Biomarker: Lyso-Sphingomyelin
This brochure provides information on testing for lyso-sphingomyelin, a biomarker for acid sphingomyelinase deficiency that is detectable in the blood of patients with ASMD.
Rare Diseases University
This comprehensive educational initiative is a physician need–oriented, interactive, and virtual platform designed for healthcare professionals around the world who are committed to advancing their knowledge and leadership in rare lysosomal storage diseases.
This listing is provided as a resource only and does not constitute an endorsement by Sanofi of any particular organization or its programming. Additional resources on this topic may be available and should be investigated. Sanofi does not review or control the content of non-Sanofi websites.
Niemann-Pick Disease Foundation
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INPDR
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National Organization for Rare Disorders
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Gene Reviews
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Genetic Testing Registry
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Genetic Home Reference
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