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  1. ... nlm.nih.gov/pubmed/7552582?tool=bestpractice.com galactosemia Although any of 3 different enzymes may be ... dysfunction. [72] Holton JB, Walter JH, Tyfield LA. Galactosemia. In: Scriver CR, Beaudet AL, Sly SD, et ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  2. ... nlm.nih.gov/pubmed/9647544?tool=bestpractice.com galactosemia Patients with galactosemia have an enzyme deficiency associated with mental retardation, ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  3. ... of total bilirubin newborn screen (includes tests for galactosemia, thyroid dysfunction, cystic fibrosis, and a variety of ... present in similar manner to generalized hepatic dysfunction, galactosemia, hereditary fructose intolerance, and transient tyrosinemia of the ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  4. ... depend on cause for reduced pituitary function). Panhypopituitarism Galactosemia SIGNS / SYMPTOMS INVESTIGATIONS SIGNS / SYMPTOMS Vomiting and failure ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  5. ... in 1 to 2:100,000 children, and galactosemia in 1:60,000 Caucasian births. Most patients ... g., Lowe syndrome, Wilson disease, Dent disease, cystinosis, galactosemia, hereditary fructose intolerance, von Gierke disease) are also ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  6. ... disorders History Exam 1st investigation Other investigations includes galactosemia and fructosinemia; newborn or infant with poor feeding, ... septic appearance, jaundice, and hepatomegaly LFTs: ... urine sugars/reducing substances: galactose (galactosemia), fructose ( ...
    Source: BMJ Best Practice, BMJ Best Practice
    Information Type: Oppslagsverk, Oppslagsverk
  7. ... Prolonged jaundice in neonate should be investigated for galactosemia. • • Tests include serum amino acid profile, lactate and ... 1-PUT (galactose-1- phosphate uridyltransferase) assay in galactosemia. DIAGNOSIS 22 This PDF of the BMJ Best ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  8. ... g., novobiocin) or Lucey-Driscoll syndrome • Metabolic conditions (galactosemia, hypothyroidism, tyrosinosis, hypermethioninemia, maternal diabetes) • Breast-feeding (including ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  9. ... and death may occur. Carbohydrate metabolism disorders include galactosemia, fructosinemia, and some glycogen storage diseases, and can ... History Exa m 1st Test Other tests includes galactosemia and fructosinemia; newborn or infant with poor feeding, ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  10. ... and death may occur. Carbohydrate metabolism disorders include galactosemia, fructosinemia, and some glycogen storage diseases, and can ... History Exa m 1st Test Other tests includes galactosemia and fructosinemia; newborn or infant with poor feeding, ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
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