Leukodystrofier or leukodystrophy Treff i utvalgte kilder: [Skjul boksen]
  1. Frambu
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    www.frambu.no/metakromatisk-leukodystrofi
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    Tilhører gruppen hvit substanssykdommer. Metakromatisk leukodystrofi er en alvorlig arvelig, fremadskridende sykdom som primært rammer nervesystemet Sykdommen deles inn i tre hovedformer, sen-infantil, juvenil og adult ...
  2. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/1066/differentials
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    ... elevated genetic testing: identification of causative mutation Metachromatic leukodystrophy History Exam 1st investigation Other investigations late adolescence ...
  3. Frambu
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    www.frambu.no/hvit-substans-sykdommer
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    Hvit substans-sykdommer rammer primært nervesystemet, spesielt hjernens fettholdige isolasjonsmateriale myelin. Myelin omgir og isolerer nervetrådene i det ...
  4. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1066/differentials
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    ... elevated genetic testing: identification of causative mutation Metachromatic leukodystrophy History Exam 1st investigation Other investigations late adolescence ...
  5. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/807/differentials
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    ... nlm.nih.gov/pubmed/14981734?tool=bestpractice.com Leukodystrophies SIGNS / SYMPTOMS INVESTIGATIONS SIGNS / SYMPTOMS In metachromatic leukodystrophy and Krabbe's leukodystrophy, the presenting features may ...
  6. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/807/differentials
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    ... nlm.nih.gov/pubmed/14981734?tool=bestpractice.com Leukodystrophies SIGNS / SYMPTOMS INVESTIGATIONS SIGNS / SYMPTOMS In metachromatic leukodystrophy and Krabbe leukodystrophy, the presenting features may be ...
  7. nokc-helsebiblioteket-collection
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    https://www.helsebiblioteket.no/.../nevrologi/nevrodegenerative-sykd
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    ... substans i hjernenmargen, slik en kan se ved leukodystrofier. Metakromatisk leukodystrofi (MLD) involverer også myelin i det ... MR bilder viser signalendringer i hvit substans ved leukodystrofier og ved Leigh syndrom kan man se høysignalendringer ...
  8. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/140/differentials
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    ... Lymphoma Inherited disorders such as mitochondrial diseases and leukodystrophies SIGNS / SYMPTOMS INVESTIGATIONS SIGNS / SYMPTOMS Patient has gradual ...
  9. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/140/differentials
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    ... Lymphoma Inherited disorders such as mitochondrial diseases and leukodystrophies SIGNS / SYMPTOMS INVESTIGATIONS SIGNS / SYMPTOMS Patient has gradual ...
  10. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/1021/pdf/1021.pdf
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    ... Niemann-Pick type C (complex transport defect) • Metachromatic leukodystrophy (arylsulphatase A deficiency) • GM1 gangliosidosis (beta-galactosidase deficiency). ...
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