"sandhoffs sykdom" or gangliosidose Treff i utvalgte kilder: [Skjul boksen]
  1. Assessment of infantile dystonia - Differentials | BMJ Best Practice - differentials/
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    bmj-bestpractice
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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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    bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/686/pdf/686.pdf
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    ... thalamus on CT scans in patients with GM2 gangliosidoses. AJNR Am J Neuroradiol. 1990;11:125-130. ...
  3. pdf
    Common hereditary lysosomal storage diseases - pdf/1021.pdf
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    bmj-bestpractice
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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- ...
  4. pdf
    Common hereditary lysosomal storage diseases
     [nytt vindu][forhåndsvisning]
    bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1021/pdf/1021.pdf
    /
    [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- ...
  5. Assessment 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-gb/686
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    [flere treff fra denne kilden]
    ... deficiency) Methylmalonic acidaemia Lesch-Nyhan syndrome Infantile GM2 gangliosidosis (Tay-Sachs and Sandhoff's disease) Mitochondrial encephalomyopathies ...
  6. Common hereditary lysosomal storage diseases - Aetiology | BMJ Best Practice - aetiology
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    bmj-bestpractice
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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- ...
  7. Evaluation of infantile dystonia - Differential diagnosis of symptoms | BMJ Best Practice
     [nytt vindu][forhåndsvisning]
    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 Secondary ...
  8. Assessment of infantile dystonia - References | BMJ Best Practice - references
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    bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/686/references
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    [flere treff fra denne kilden]
    ... thalamus on CT scans in patients with GM2 gangliosidoses. AJNR Am J Neuroradiol. 1990;11:125-130. ...
  9. Common hereditary lysosomal storage diseases - Epidemiology | BMJ Best Practice - epidemiology
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    bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/1021/epidemiology
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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] Meikle ...
  10. Common hereditary lysosomal storage diseases - Approach | BMJ Best Practice - diagnosis-approach
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    bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/1021/diagnosis-approach
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    ... urinary oligosaccharides are elevated in GM1 and GM2 gangliosidosis. [44] Byers S, Rozaklis T, Brumfield LK, et ...
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