Galaktosemi Treff i utvalgte kilder: [Skjul boksen]
  1. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/239/history-exam
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    ... 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 ...
  2. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1004/history-exam
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    ... nlm.nih.gov/pubmed/9647544?tool=bestpractice.com galactosemia Patients with galactosemia have an enzyme deficiency associated with mental retardation, ...
  3. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/739/investigations
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    ... 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 ...
  4. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/739/differentials
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    ... depend on cause for reduced pituitary function). Panhypopituitarism Galactosemia SIGNS / SYMPTOMS INVESTIGATIONS SIGNS / SYMPTOMS Vomiting and failure ...
  5. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/239/pdf/239.pdf
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    ... 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 ...
  6. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/1198/differentials
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    ... 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 ( ...
  7. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/883/pdf/883.pdf
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    ... 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 ...
  8. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/672/pdf/672.pdf
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    ... g., novobiocin) or Lucey-Driscoll syndrome • Metabolic conditions (galactosemia, hypothyroidism, tyrosinosis, hypermethioninemia, maternal diabetes) • Breast-feeding (including ...
  9. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/1198/pdf/1198.pdf
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    ... 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, ...
  10. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1198/pdf/1198.pdf
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    ... 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, ...
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