"sandhoffs sykdom" or gangliosidose Treff i utvalgte kilder: [Skjul boksen]
  1. Frambu
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    www.frambu.no/sandhoffs-sykdom
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    Sandhoffs sykdom er en arvelig, medfødt stoffskiftesykdom som skyldes mangelfull nedbrytning av visse fettforbindelser med derav følgende avleiringer ... etter Konrad Sandhoff, som beskrev den i 1965. Sandhoffs sykdom viser seg vanligvis hos spebarn, først ved slapphet ...
  2. 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 ...
  3. Frambu
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    www.frambu.no/diagnoser
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    ... Arvelige polynevropatier Skulder-bekken muskeldystrofi Wolf-Hirschhorns syndrom Sandhoffs sykdom POLG-relaterte mitokondriesykdommer Von Recklinghausens sykdom Duchennes muskeldystrofi ...
  4. 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. ...
  5. Frambu
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    www.frambu.no
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    ... Arvelige polynevropatier Skulder-bekken muskeldystrofi Wolf-Hirschhorns syndrom Sandhoffs sykdom POLG-relaterte mitokondriesykdommer Von Recklinghausens sykdom Duchennes muskeldystrofi ...
  6. 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- ...
  7. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/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 (arylsulfatase A deficiency) • GM1 gangliosidosis (beta galactosidase deficiency). Mucopolysaccharidosis (MPS) • MPS I (alpha- ...
  8. bmj-bestpractice
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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 ...
  9. 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- ...
  10. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/686
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    ... deficiency) Methylmalonic acidemia Lesch-Nyhan syndrome Infantile GM2 gangliosidosis (Tay-Sachs and Sandhoff disease) Mitochondrial encephalomyopathies Secondary ...
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