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Results 1 - 5 of 5 for Sialidosis type I
Did you mean silicosis type I?
  1. Sialidosis 
    ... which symptoms appear and the severity of features.Sialidosis type I, also referred to as cherry-red spot ... of sharp vision (reduced visual acuity). Individuals with sialidosis type I also experience muscle twitches (myoclonus), difficulty coordinating ...
    https://medlineplus.gov/genetics/condition/sialidosis - Genetics
  2. NEU1 gene 
    ... Guerrini R, Zammarchi E, Donati MA, Morrone A. Type II sialidosis: review of the clinical spectrum and identification of ... mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme ...
    https://medlineplus.gov/genetics/gene/neu1 - Genetics
  3. Lipid Storage Diseases From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Tay-Sachs Disease/Related Issues ... Tay-Sachs Disease ... Lipid Metabolism Disorders/Start Here ... Lipid Metabolism Disorders ... Gaucher Disease/Learn More ... Gaucher Disease
    https://www.ninds.nih.gov/.../disorders/lipid-storage-diseases - External Health Links
  4. Mucolipidosis II alpha/beta 
    ... Stevenson RE, Friez MJ. Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of ... Taylor HA, Leroy JG, Spranger J. Prenatal mucolipidosis type II (I-cell disease) can present as Pacman ...
    https://medlineplus.gov/.../condition/mucolipidosis-ii-alpha-beta - Genetics
  5. Mucolipidosis III alpha/beta 
    ... Stevenson RE, Friez MJ. Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of ...
    https://medlineplus.gov/.../condition/mucolipidosis-iii-alpha-beta - Genetics