"jouberts syndrom" or nephronophthisis Treff i utvalgte kilder: [Skjul boksen]
  1. Frambu
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    www.frambu.no/jouberts-syndrom
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    Jouberts syndrom (JS) er en sjelden, medfødt utviklingsforstyrrelse som først og fremst rammer det sentrale nervesystemet. JS oppfattes ... men som en gruppe sykdommer (på engelsk kalt Jouberts syndrome related disorders). I beskrivelsen under menyen til venstre ...
  2. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/875/differentials
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    ... Other investigations chronic kidney disease in childhood with nephronophthisis; may have flank pain or haematuria with polycystic ... in PKD; retinitis pigmentosa in some forms of nephronophthisis; polydactyly in Bardet-Biedl syndrome urinalysis: usually acellular; ...
  3. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/875/differentials
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    ... Other investigations chronic kidney disease in childhood with nephronophthisis; may have flank pain or hematuria with polycystic ... in PKD; retinitis pigmentosa in some forms of nephronophthisis; polydactyly in Bardet-Biedl syndrome urinalysis: usually acellular; ...
  4. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/875/pdf/875.pdf
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    ... urinary tract obstruction. • Cerebral haemorrhage, stroke, and childhood nephronophthisis may be associated with cystic kidney disease. • Insulin ... Exa m chronic kidney disease in childhood with nephronophthisis; may have flank pain or haematuria with polycystic ...
  5. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/875/pdf/875.pdf
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    ... urinary tract obstruction. • Cerebral hemorrhage, stroke, and childhood nephronophthisis may be associated with cystic kidney disease. • Insulin ... Exa m chronic kidney disease in childhood with nephronophthisis; may have flank pain or hematuria with polycystic ...
  6. Frambu
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    www.frambu.no/diagnoser
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    ... MPS VII PNDC CLN3 CMT Kinky hair syndrome Jouberts syndrom og relaterte sykdommer Nevronal ceroid lipofuscinose 5p- delesjonssyndrom ... ceroid lipofuscinose Infantil spinal muskelatrofi Jacobs syndrom JNCL Jouberts syndrom og relaterte sykdommer Juvenil nevronal ceroid lipofuscinose Kabuki ...
  7. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/875/diagnosis-approach
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    ... urinary tract obstruction. Cerebral haemorrhage, stroke, and childhood nephronophthisis may be associated with cystic kidney disease. Insulin ...
  8. Frambu
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    www.frambu.no
    /
    ... MPS VII PNDC CLN3 CMT Kinky hair syndrome Jouberts syndrom og relaterte sykdommer Nevronal ceroid lipofuscinose 5p- delesjonssyndrom ...
  9. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/875/diagnosis-approach
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    ... urinary tract obstruction. Cerebral hemorrhage, stroke, and childhood nephronophthisis may be associated with cystic kidney disease. Insulin ...
  10. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1144/aetiology
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    ... diagnosed until the later development of diabetes mellitus. Joubert syndrome: a rare condition usually inherited in an autosomal ...
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