"sandhoffs sykdom" or gangliosidose Treff i utvalgte kilder: [Skjul boksen]
  1. Assessment of infantile dystonia - Differentials | BMJ Best Practice - differentials
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    https://bestpractice.bmj.com/topics/en-gb/686/differentials
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    ... gov/pubmed/15571220?tool=bestpractice.com Infantile GM2 gangliosidosis (Tay-Sachs and Sandhoff's disease) History Exam ... gov/pubmed/15571220?tool=bestpractice.com Infantile GM2 gangliosidosis (Tay-Sachs and Sandhoff's disease) History Exam ...
  2. pdf
    Assessment of infantile dystonia - pdf/686.pdf
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    https://bestpractice.bmj.com/topics/en-gb/686/pdf/686.pdf
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    ... the following disorders. • Lysosomal storage disorders include GM2 gangliosidoses and Gaucher's disease. For example, abnormal posturing, ... thalamus on CT scans in patients with GM2 gangliosidoses. AJNR Am J Neuroradiol. 1990 Jan-Feb;11( ...
  3. pdf
    Evaluation of infantile dystonia
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    https://bestpractice.bmj.com/topics/en-us/686/pdf/686.pdf
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    ... the following disorders. • Lysosomal storage disorders include GM2 gangliosidoses and Gaucher disease. For example, abnormal posturing, rigidity ( ... thalamus on CT scans in patients with GM2 gangliosidoses. AJNR Am J Neuroradiol. 1990 Jan-Feb;11( ...
  4. pdf
    Common hereditary lysosomal storage diseases - pdf/1021.pdf
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    https://bestpractice.bmj.com/topics/en-gb/1021/pdf/1021.pdf
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    ... Nova Scotia, and Tay- Sachs variant of GM2 gangliosidosis in eastern Quebec French Canadian populations. [ 5] [ 6] [ ... transport defect) • Metachromatic leukodystrophy (arylsulphatase A deficiency) • GM1 gangliosidosis (beta-galactosidase deficiency). Mucopolysaccharidosis (MPS) • MPS I (alpha- ...
  5. pdf
    Common hereditary lysosomal storage diseases
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    bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1021/pdf/1021.pdf
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    [flere treff fra denne kilden]
    ... Nova Scotia, and Tay- Sachs variant of GM2 gangliosidosis in eastern Quebec French Canadian populations. [ 5] [ 6] [ ... transport defect) • Metachromatic leukodystrophy (arylsulfatase A deficiency) • GM1 gangliosidosis (beta galactosidase deficiency). Mucopolysaccharidosis (MPS) • MPS I (alpha- ...
  6. Assessment of infantile dystonia - Differential diagnosis of symptoms | BMJ Best Practice
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    https://bestpractice.bmj.com/topics/en-gb/686
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    ... deficiency) Methylmalonic acidaemia Lesch-Nyhan syndrome Infantile GM2 gangliosidosis (Tay-Sachs and Sandhoff's disease) Mitochondrial encephalomyopathies ...
  7. Common hereditary lysosomal storage diseases - Aetiology | BMJ Best Practice - aetiology
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    https://bestpractice.bmj.com/topics/en-gb/1021/aetiology
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    ... transport defect) Metachromatic leukodystrophy (arylsulphatase A deficiency) GM1 gangliosidosis (beta-galactosidase deficiency). Mucopolysaccharidosis (MPS) MPS I (alpha- ...
  8. Evaluation of infantile dystonia - Differential diagnosis of symptoms | BMJ Best Practice
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    bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/686
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    [flere treff fra denne kilden]
    ... deficiency) Methylmalonic acidemia Lesch-Nyhan syndrome Infantile GM2 gangliosidosis (Tay-Sachs and Sandhoff disease) Mitochondrial encephalomyopathies Allan- ...
  9. Assessment of infantile dystonia - Aetiology | BMJ Best Practice - aetiology
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    https://bestpractice.bmj.com/topics/en-gb/686/aetiology
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    ... the following disorders. Lysosomal storage disorders include GM2 gangliosidoses and Gaucher's disease. For example, abnormal posturing, ...
  10. Assessment of infantile dystonia - References | BMJ Best Practice - references
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    https://bestpractice.bmj.com/topics/en-gb/686/references
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    ... thalamus on CT scans in patients with GM2 gangliosidoses. AJNR Am J Neuroradiol. 1990 Jan-Feb;11( ...
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