135 top medical experts on Neuraminidase deficiency with beta-galactosidase deficiency across 11 countries and 10 U.S. states, including 18 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.
- Neuraminidase deficiency with beta-galactosidase deficiency: Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.
- Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
- Support Organizations
- Hide and Seek Foundation for Lysosomal Storage Disease Research
6475 East Pacific Coast Highway
Suite 466
Long Beach, CA 90803
Toll-free: (844) 762-7672
E-mail: info@hideandseek.org
Website: https://hideandseek.org
- The International Advocates for Glycoprotein Storage Diseases (ISMRD)
20880 Canyon View Drive
Saratoga, CA 95070
E-mail: info@ismrd.org
Website: https://www.ismrd.org/
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- Synonyms: Cathepsin A Deficiency, deficiency of Cathepsin A, Deficiency of Cathepsin A, Galactosialidosis, Goldberg syndrome, Lysosomal Protective Protein Deficiency, deficiency of Lysosomal protective protein, Protective protein-Cathepsin A deficiency
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