Mucopolysaccharidosis VII

Mucopolysaccharidosis characterized by excessive dermatan and heparan sulfates in the urine and Hurler-like features. It is caused by a deficiency of beta-glucuronidase.

Also Known As:

Sly Syndrome; GUSB Deficiency; Mucopolysaccharidosis 7; Mucopolysaccharidosis Type VII; Sly Disease; beta-Glucuronidase Deficiency; Deficiencies, GUSB; Deficiencies, beta-Glucuronidase; Deficiency, GUSB; Deficiency, beta-Glucuronidase; Disease, Sly; GUSB Deficiencies; Mucopolysaccharidosis Type VIIs; Mucopolysaccharidosis VIIs; Syndrome, Sly; Type VII, Mucopolysaccharidosis; Type VIIs, Mucopolysaccharidosis; VIIs, Mucopolysaccharidosis; beta Glucuronidase Deficiency; beta-Glucuronidase Deficiencies

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Lysosomal Storage Diseases: 2180
      - Mucopolysaccharidoses: 1646
        Mucopolysaccharidosis VII: 254
    - Inborn Errors Carbohydrate Metabolism
      - Mucopolysaccharidoses: 1646
        Mucopolysaccharidosis VII: 254
Skin and Connective Tissue Diseases
- Connective Tissue Diseases: 3325
  - Mucinoses: 170
    - Mucopolysaccharidoses: 1646
      - Mucopolysaccharidosis VII: 254
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Lysosomal Storage Diseases: 2180
      - Mucopolysaccharidoses: 1646
        Mucopolysaccharidosis VII: 254
    - Inborn Errors Carbohydrate Metabolism
      - Mucopolysaccharidoses: 1646
        Mucopolysaccharidosis VII: 254

E H Birkenmeier Selected Research

E H Birkenmeier Research Topics

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