Sandhoffs or gangliosidosis Treff i utvalgte kilder: [Skjul boksen]
  1. Frambu
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    www.frambu.no/sandhoffs-sykdom
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    Sandhoffs sykdom er en arvelig, medfødt stoffskiftesykdom som skyldes mangelfull nedbrytning av visse fettforbindelser med derav følgende ... karsystemet. Sykdommen har fått sitt navn etter Konrad Sandhoff, som beskrev den i 1965. Sandhoffs sykdom viser ...
  2. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/686/differentials
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    ... gov/pubmed/15571220?tool=bestpractice.com Infantile GM2 gangliosidosis (Tay-Sachs and Sandhoff's disease) History Exam 1st investigation Other investigations ...
  3. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/686/pdf/686.pdf
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    ... microscopy evaluation should be performed if infantile GM2 gangliosidosis is highly considered in the differential diagnosis of ... deficiency) Methylmalonic acidaemia Lesch- Nyhan syndrome Infantile GM2 gangliosidosis ( Tay- Sachs and Sandhoff' s disease) Mitochondrial encephalomyopathies ...
  4. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/1021/pdf/1021.pdf
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    ... Nova Scotia, and Tay- Sachs variant of GM2 gangliosidosis in eastern Quebec French Canadian populations. [ 5] [ 6] [ ... Fig- 3] • Tay-Sachs (beta-hexosaminidase A deficiency) • Sandhoff's (beta-hexosaminidase B deficiency) • Krabbe's (beta- ...
  5. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1021/pdf/1021.pdf
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    ... Nova Scotia, and Tay- Sachs variant of GM2 gangliosidosis in eastern Quebec French Canadian populations. [ 5] [ 6] [ ... Fig- 3] • Tay-Sachs (beta hexosaminidase A deficiency) • Sandhoff (beta hexosaminidase B deficiency) • Krabbe (beta galactosylceramidase deficiency) • ...
  6. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/686
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    ... deficiency) Methylmalonic acidaemia Lesch-Nyhan syndrome Infantile GM2 gangliosidosis (Tay-Sachs and Sandhoff's disease) Mitochondrial encephalomyopathies ...
  7. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/1021/aetiology
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    ... Citation ends]. Tay-Sachs (beta-hexosaminidase A deficiency) Sandhoff's (beta-hexosaminidase B deficiency) Krabbe's (beta- ... transport defect) Metachromatic leukodystrophy (arylsulphatase A deficiency) GM1 gangliosidosis (beta-galactosidase deficiency). Mucopolysaccharidosis (MPS) MPS I (alpha- ...
  8. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/686
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    ... deficiency) Methylmalonic acidemia Lesch-Nyhan syndrome Infantile GM2 gangliosidosis (Tay-Sachs and Sandhoff disease) Mitochondrial encephalomyopathies Secondary ...
  9. Frambu
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    www.frambu.no/diagnoser
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    ... Arvelige polynevropatier Skulder-bekken muskeldystrofi Wolf-Hirschhorns syndrom Sandhoffs sykdom POLG-relaterte mitokondriesykdommer Von Recklinghausens sykdom Duchennes ...
  10. felleskatalogen
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    https://www.felleskatalogen.no/medisin/lipitor-pfizer-560999
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    ... 2585–90. SPC Bezalip Shanahan RL, Kerzee JA, Sandhoff BG et al. Low myopathy rates associated with statins as ... 2004; 292: 2585–90. Shanahan RL, Kerzee JA, Sandhoff BG et al. Low myopathy rates associated with statins as ...
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