"pantotenate kinase-assosiert nevrodegenerativ sykdom" or neuroacanthocytosis Treff i utvalgte kilder: [Skjul boksen]
  1. Frambu
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    www.frambu.no/pkan
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    Sykdommen har fått navn etter den biokjemiske forstyrrelsen som forårsaker den, nemlig pantotenate kinase (PKAN). Sykdommen infantil nevroaxonal dystrofi (også kalt ...
  2. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/513/differentials
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    ... demyelination in the centrum semiovale (Haw River syndrome). Neuroacanthocytosis SIGNS / SYMPTOMS INVESTIGATIONS SIGNS / SYMPTOMS Often has associated ...
  3. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/513/differentials
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    ... demyelination in the centrum semiovale (Haw River syndrome). Neuroacanthocytosis SIGNS / SYMPTOMS INVESTIGATIONS SIGNS / SYMPTOMS Often has associated ...
  4. Frambu
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    www.frambu.no/diagnoser
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    ... VI) Leukodystrofier PEO Hereditære ataxier 22q11.2 syndrom Pantotenate kinase-assosiert nevrodegenerativ sykdom 4p- syndrom MPS I Jacobs syndrom Cockaynes syndrom ...
  5. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/513/pdf/513.pdf
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    ... disorders other than Huntington's disease (e.g., neuroacanthocytosis) . [ 16] evident caudate or striatal atrophy may be ... Diagnosis Condition Tardive dyskinesia Dentatorubro- pallidoluysian atrophy (DRPLA) Neuroacanthocytosis Differentiating signs / Differentiating tests sy mpto ms • Typically ...
  6. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/513/pdf/513.pdf
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    ... in disorders other than Huntington disease (e.g., neuroacanthocytosis) . [ 15] evident caudate or striatal atrophy may be ... Diagnosis Condition Tardive dyskinesia Dentatorubro- pallidoluysian atrophy (DRPLA) Neuroacanthocytosis Differentiating signs / Differentiating tests sy mpto ms • Typically ...
  7. Frambu
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    www.frambu.no
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    ... VI) Leukodystrofier PEO Hereditære ataxier 22q11.2 syndrom Pantotenate kinase-assosiert nevrodegenerativ sykdom 4p- syndrom MPS I Jacobs syndrom Cockaynes syndrom ...
  8. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/513
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    ... interests. Differentials Tardive dyskinesia Dentatorubro-pallidoluysian atrophy (DRPLA) Neuroacanthocytosis Full details Guidelines Standards and guidelines for clinical ...
  9. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/513/investigations
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    ... disorders other than Huntington's disease (e.g., neuroacanthocytosis). [16] Stober T, Wussow W, Schimrigk K. Bicaudate ...
  10. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/970/pdf/970.pdf
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    ... tics include: [ 3] • Static encephalopathy • Autistic spectrum disorders • Neuroacanthocytosis • Huntington's disease • Wilson's disease • Pantothenate-kinase ...
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