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Results 1 - 8 of 8 for Multiple sulfatase deficiency
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  1. Multiple sulfatase deficiency 
    Multiple sulfatase deficiency is a condition that mainly affects the brain, skin, and skeleton. Because the signs and symptoms of multiple sulfatase deficiency ...
    https://medlineplus.gov/.../condition/multiple-sulfatase-deficiency - Genetics
  2. SUMF1 gene 
    ... the SUMF1 gene have been found to cause multiple sulfatase deficiency. This condition is apparent at birth or early ... skeletal abnormalities. Most SUMF1 gene mutations that cause multiple sulfatase deficiency change single amino acids in the FGE enzyme. ...
    https://medlineplus.gov/genetics/gene/sumf1 - Genetics
  3. Metabolic Disorders (National Library of Medicine)  
    Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
    https://medlineplus.gov/metabolicdisorders.html - Health Topics
  4. Genetic Brain Disorders (National Library of Medicine)  
    A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. ...
    https://medlineplus.gov/geneticbraindisorders.html - Health Topics
  5. Mucopolysaccharidosis type II 
    ... their sons. Hunter syndrome I2S deficiency Iduronate 2-sulfatase deficiency MPS II Genetic Testing Registry: Mucopolysaccharidosis, MPS-II ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-ii - Genetics
  6. ARSA gene 
    ... symptoms of metachromatic leukodystrophy. This condition, called pseudoarylsulfatase ... cerebroside 3-sulfatase Cerebroside-3-sulfate 3-sulfohydrolase Cerebroside-Sulfatase MLD ...
    https://medlineplus.gov/genetics/gene/arsa - Genetics
  7. Mucopolysaccharidosis type VI 
    ... arylsulfatase B (also known as N-acetylgalactosamine-4-sulfatase), which is involved in the breakdown of large ... clinical implications of mutations in N-acetylgalactosamine-4-sulfatase. Hum Mutat. 2001 Oct;18(4):282-95. ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-vi - Genetics
  8. Mucopolysaccharidoses From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Carbohydrate Metabolism Disorders/Specifics ... Carbohydrate Metabolism Disorders ... National Institute of Neurological Disorders and Stroke ... From the National Institutes ...
    https://www.ninds.nih.gov/.../disorders/mucopolysaccharidoses - External Health Links