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  1. ... nlm.nih.gov/pubmed/21431622?tool=bestpractice.com Methylmalonic acidaemia History Exam 1st investigation Other investigations lethargy, developmental ...
    Source: BMJ Best Practice, BMJ Best Practice
    Information Type: Oppslagsverk, Oppslagsverk
  2. ... tryptophan. [ 33] Dystonia can also be seen in: methylmalonic acidaemia, propionic acidaemia, and acute leucine encephalopathy due to ... stroke'. These conditions include glutaric aciduria 1 and methylmalonic acidaemia. Dystonia can also occur during acute crisis in ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  3. ... ganglia lesions, and patients can have status dystonicus. • Organic acidemias with neurotoxic metabolites can cause both acute basal ... can also occur during acute crisis in other organic acidemias (e.g., maple syrup urine disease) and urea ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  4. ... stroke'. These conditions include glutaric aciduria 1 and methylmalonic acidaemia. Dystonia can also occur during acute crisis in ... responsive disorders, such as hydroxocobalamin for B12-responsive methylmalonic acidaemia, and biotin with thiamine for DYT-SLC19A3 (biotin- ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  5. ... can also occur during acute crisis in other organic acidemias (e.g., maple syrup urine disease) and urea ... Treating severe hyperammonemia (if present, can occur in organic acidemias) with dialysis or ammonia scavengers; severe leucinosis in ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  6. ... aciduria type I (glutaryl-CoA dehydrogenase [GCDH] deficiency) Methylmalonic acidaemia Lesch-Nyhan syndrome Infantile GM2 gangliosidosis (Tay-Sachs ... aciduria type I (glutaryl-CoA dehydrogenase [GCDH] deficiency) Methylmalonic acidaemia Lesch-Nyhan syndrome Infantile GM2 gangliosidosis (Tay-Sachs ...
    Source: BMJ Best Practice, BMJ Best Practice
    Information Type: Oppslagsverk, Oppslagsverk
  7. ... devastating if unrecognized. Protein metabolism disorders include aminoaciduria, organic acidemias, and urea cycle disorders, and are associated with ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  8. ... disorders History Exam 1st investigation Other investigations includes organic acidemias and urea cycle disorders; newborn or infant with ... disorders History Exam 1st investigation Other investigations includes organic acidemias and urea cycle disorders; newborn or infant with ...
    Source: BMJ Best Practice, BMJ Best Practice
    Information Type: Oppslagsverk, Oppslagsverk
  9. ... These include urea cycle disorders, glycogen storage disease, organic acidemias, primary carnitine deficiency, hereditary fructose intolerance, and fatty ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  10. ... insufficiency. • Urinary organic acids, specifically to look for organic acidemias, peroxisomal diseases, and mitochondrial diseases. • Urinary bile acids ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
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