Tay-sachs or "inborn errors of metabolism" Treff i utvalgte kilder: [Skjul boksen]
  1. Frambu
    -
    www.frambu.no/tay-sachs-sykdom
    /
    Tay-Sachs' sykdom er en arvelig, medfødt stoffskiftesykdom som skyldes mangelfull nedbrytning av visse fettforbindelser med derav følgende ... som beskrev den på slutten av 1800-tallet. Tay-Sachs' sykdom viser seg vanligvis hos spebarn, først ved ...
  2. bmj-bestpractice
    -
    https://bestpractice.bmj.com/topics/en-gb/893/differentials
    /
    ... Aldrich syndrome. genetic testing: characteristic genetic mutations detected Inborn errors of metabolism History Exam 1st investigation Other investigations failure to ...
  3. bmj-bestpractice
    -
    https://bestpractice.bmj.com/topics/en-gb/686/differentials
    /
    ... pubmed/15571220?tool=bestpractice.com Infantile GM2 gangliosidosis (Tay-Sachs and Sandhoff's disease) History Exam 1st investigation ... pubmed/15571220?tool=bestpractice.com Infantile GM2 gangliosidosis (Tay-Sachs and Sandhoff's disease) History Exam 1st investigation ...
  4. bmj-bestpractice
    -
    https://bestpractice.bmj.com/topics/en-gb/884/differentials
    /
    ... function tests: low T4, elevated TSH Congenital hypothyroidism Inborn errors of metabolism History Exam 1st investigation Other investigations highly variable: ...
  5. bmj-bestpractice
    -
    https://bestpractice.bmj.com/topics/en-gb/1077/differentials
    /
    ... nerve conduction studies: normal Conversion and somatisation disorders Inborn errors of metabolism History Exam 1st investigation Other investigations positive family ...
  6. bmj-bestpractice
    -
    https://bestpractice.bmj.com/topics/en-us/893/differentials
    /
    ... Aldrich syndrome. genetic testing: characteristic genetic mutations detected Inborn errors of metabolism History Exam 1st investigation Other investigations failure to ...
  7. bmj-bestpractice
    -
    https://bestpractice.bmj.com/topics/en-us/884/differentials
    /
    ... function tests: low T4, elevated TSH Congenital hypothyroidism Inborn errors of metabolism History Exam 1st investigation Other investigations highly variable: ...
  8. bmj-bestpractice
    -
    https://bestpractice.bmj.com/topics/en-us/1077/differentials
    /
    ... nerve conduction studies: normal Conversion and somatization disorders Inborn errors of metabolism History Exam 1st investigation Other investigations positive family ...
  9. bmj-bestpractice
    -
    https://bestpractice.bmj.com/topics/en-gb/436/differentials
    /
    ... ragged red fibres on modified Gomori trichrome stain. Inborn errors of metabolism SIGNS / SYMPTOMS INVESTIGATIONS SIGNS / SYMPTOMS Hx parental consanguinity, ...
  10. bmj-bestpractice
    -
    https://bestpractice.bmj.com/topics/en-us/436/differentials
    /
    ... ragged red fibers on modified Gomori trichrome stain. Inborn errors of metabolism SIGNS / SYMPTOMS INVESTIGATIONS SIGNS / SYMPTOMS Hx parental consanguinity, ...
første · forrige · 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · neste · siste