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Mucolipidosis
- Mucolipidosis III gamma is a slowly progressive disorder that affects many parts of the body. Signs and symptoms of this condition typically appear around age 3.Individuals ...
- Mucolipidosis III alpha/beta is a disorder that affects many parts of the body. Signs and symptoms of this condition typically appear around age 3 and worsen slowly ...
- Mucolipidosis II alpha/beta (also known as I-cell disease) is a progressively debilitating disorder that affects many parts of the body. Most affected individuals do ...
- Mucolipidosis type IV is an inherited disorder characterized by delayed development and vision impairment that worsens over time. The severe form of the disorder is ...
- 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 ...
- ... of the condition. Cherry red spot myoclonus syndrome Mucolipidosis I Mucolipidosis type I Myoclonus cherry red spot syndrome Genetic ...
- Metabolic Disorders/Clinical Trials ... Metabolic Disorders ... National Institutes of Health ... From the National Institutes of Health
- ... the MCOLN1 gene have been found to cause mucolipidosis type IV. Most of these mutations result in ... MCOLN1 gene account for almost all cases of mucolipidosis type IV in people with Ashkenazi Jewish ancestry. ...
- ... the GNPTAB gene have been found to cause mucolipidosis II alpha/beta. These mutations prevent the production ... cause molecules to build up inside lysosomes, including mucolipidosis II alpha/beta, are called lysosomal storage disorders. ...
- ... the GNPTG gene have been found to cause mucolipidosis III gamma. These mutations result in reduced the ... cause molecules to build up inside lysosomes, including mucolipidosis III gamma, are called lysosomal storage disorders. The ...
(National Institutes of Health) 