Aicardi-goutières syndrom Treff i utvalgte kilder: [Skjul boksen]
  1. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/686/differentials
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    ... suspected syndrome, or whole exome or genome sequencing. Aicardi-Goutieres syndrome (AGS) History Exam 1st investigation Other investigations subacute ...
  2. Frambu
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    www.frambu.no/aicardi-goutieres-syndrom
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    Sykdommen viser hjernefunksjonsforstyrrelser fra tidlig barnealder og symptomdebut fra fødsel til de første leveårene. Spisevansker med nedsatt trivsel, slapphet, ...
  3. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/686/pdf/686.pdf
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    ... syndrome of dystonia with deafness and hypomyelination. [ 47] • Aicardi-Goutières syndrome (AGS) is a type I interferonopathy (monogenic disorder ... including infantile epileptic- dyskinetic encephalopathy Leukodystrophies/ hypomyelinating ... inherited neurodegenerative disorders with dystonia Paroxysmal ...
  4. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/686/pdf/686.pdf
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    ... syndrome of dystonia with deafness and hypomyelination. [ 47] • Aicardi-Goutières syndrome (AGS) is a type I interferonopathy (monogenic disorder ... including infantile epileptic- dyskinetic encephalopathy Leukodystrophies/ hypomyelinating ... inherited neurodegenerative disorders with dystonia Paroxysmal ...
  5. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/686/references
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    ... 2002;6(5):243-7. Abstract Goutieres F. Aicardi-Goutieres syndrome. Brain Dev. 2005 Apr;27(3):201-6. ... TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières syndrome and beyond. Neuropediatrics. 2016 Dec;47(6):355- ...
  6. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/686/aetiology
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    ... nlm.nih.gov/pubmed/24011989?tool=bestpractice.com Aicardi-Goutières syndrome (AGS) is a type I interferonopathy (monogenic disorder ... TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières syndrome and beyond. Neuropediatrics. 2016 Dec;47(6):355- ...
  7. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/686
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    ... including infantile epileptic-dyskinetic encephalopathy Leukodystrophies/hypomyelinating disorders Aicardi-Goutieres syndrome (AGS) Other inherited neurodegenerative disorders with dystonia Paroxysmal ...
  8. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/686
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    ... including infantile epileptic-dyskinetic encephalopathy Leukodystrophies/hypomyelinating disorders Aicardi-Goutieres syndrome (AGS) Other inherited neurodegenerative disorders with dystonia Paroxysmal ...
  9. RELIS
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    relis.arnett.no/Utredning_Ekstern.aspx?Relis=2&S=3269
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    ... måneder gammelt barn har en sjelden nevrodegenerativ lidelse (Aicardi-Goutieres syndrom). En utenlandsk ekspert har anbefalt oppstart med steroider ... som beskriver bruk av etidronat hos barn med Aicardi-Goutieres syndrom, men det foreligger noe dokumentasjon på bruk av ...
  10. Frambu
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    www.frambu.no/diagnoser
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    ... sensoriske nevropatier CHARGE syndrom Trisomi 18 Seitelbergers sykdom Aicardi-Goutières syndrom Velokardiofasialt syndrom Arvelig polynevropati Skulder-bekken muskeldystrofi Wolf- ...
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