Additional Materials

New to Molecular Testing?

This 4-minute video illustrates the path a healthcare provider takes when ordering diagnostic testing for a lysosomal storage disease for the first time.

Rare Diseases University Webinar

This recorded session included a presentation by Dr. Melissa Wasserstein (Children’s Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY) that covered the following topics:

Splenomegaly in Children: When It Is Not a Malignancy

In this symposium from ASPHO 2021, Dr. Joel Weinthal (Medical City Hospital in Dallas, Dallas, TX) reviewed patient cases where splenomegaly and other unexplained findings typical of a malignancy are factors in a differential diagnosis of Gaucher disease or ASMD. The following topics related to Gaucher disease and ASMD were discussed:

Clinical Rationale of Parallel Testing

This short video reviews the similarities in the clinical presentation between Gaucher disease and ASMD and when to consider testing for each disease.

Gaucher Disease and ASMD: WORLD 2020 Symposium

In this symposium from the WORLD 2020 conference in February 2020, Dr. Pramod K. Mistry (Yale School of Medicine, New Haven, CT) and Edward H. Schuchman, PhD (Icahn School of Medicine, New York, NY) reviewed Gaucher disease and ASMD mechanisms of disease and clinical similarities, and combined expertise from the two disease areas to draw commonalities, parallels, and dichotomies. The following topics related to Gaucher disease and ASMD were discussed:

Rare Diseases University

This comprehensive educational initiative is a physician need-oriented, interactive, and virtual platform designed for healthcare professionals (HCPs) around the world who are committed to advancing their knowledge and leadership in rare lysosomal storage diseases.

ASMD Diagnosis

This brochure provides more information on testing for Gaucher disease and for ASMD, historically known as Niemann Pick type A and type B, including incidence, patient classification, evaluations for diagnosis, and a selection of laboratories offering both Gaucher disease enzyme assay (β-glucosidase or glucocerbrosidase), ASM enzyme assay (acid sphingomyelinase), and/or GBA and SMPD1 sequencing, respectively.

Would You Recognize:

For information on the overlap of signs and symptoms between Gaucher disease type 1 (GD1) and ASMD type B,

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