Ornitintranscarbamylasemangel or "urea cycle disorders" Treff i utvalgte kilder: [Skjul boksen]
  1. Frambu
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    www.frambu.no/ornitintranscarbamylasemangel
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    Ornitintranscarbamylasemangel (ornithin transcarbamylase deficiency) er en arvelig, medfødt stoffskiftesykdom som oftest rammer nyfødte gutter. Sykdommen skyldes mangelfull ...
  2. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/1027/differentials
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    ... Presence of serum ketones or betahydroxybutyrate. Diabetic ketoacidosis Urea cycle disorders SIGNS / SYMPTOMS INVESTIGATIONS SIGNS / SYMPTOMS Hx or FHx ... or mutation analysis will be positive for a urea cycle disorder. Type 1 glycogen storage disease SIGNS / SYMPTOMS INVESTIGATIONS ...
  3. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1027/differentials
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    ... Presence of serum ketones or betahydroxybutyrate. Diabetic ketoacidosis Urea cycle disorders SIGNS / SYMPTOMS INVESTIGATIONS SIGNS / SYMPTOMS Hx or FHx ... or mutation analysis will be positive for a urea cycle disorder. Type 1 glycogen storage disease SIGNS / SYMPTOMS INVESTIGATIONS ...
  4. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/1198/differentials
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    ... 1st investigation Other investigations includes organic acidaemias and urea cycle disorders; newborn or infant with possible family history, poor ... muscular tone venous pH CO₂: acidosis (aminoaciduria), alkalosis (urea ... serum ammonia level: elevated (aminoaciduria), markedly elevated (urea ...
  5. RELIS
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    relis.arnett.no/Utredning_Ekstern.aspx?Relis=5&S=430
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    ... M. Current straetegis for the management of neonatal urea cycle disorder. J Pediatr 2001; 138 (1 suppl): S30-S39.2. Batshaw ML et al. Alternative pathway therapy for urea cycle disorders: Twenty years later. J Pediatr 2001; 138 (1 ...
  6. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/1198/pdf/1198.pdf
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    ... Protein metabolism disorders include aminoaciduria, organic acidaemias, and urea cycle disorders, and are associated with poor feeding, vomiting, and ...
  7. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/1027/pdf/1027.pdf
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    ... metabolism may mimic Reye's syndrome. These include urea cycle disorders, glycogen storage disease, organic acidaemias, primary carnitine deficiency, ...
  8. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/488/pdf/488.pdf
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    ... initiation of valproate semisodium therapy in patients with urea cycle disorders. Prior to the initiation of valproate semisodium, evaluation for urea cycle disorders should be considered in the following patients: 1) ...
  9. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/488/complications
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    ... initiation of valproate semisodium therapy in patients with urea cycle disorders. Prior to the initiation of valproate semisodium, evaluation for urea cycle disorders should be considered in the following patients: 1) ...
  10. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1198/pdf/1198.pdf
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    ... Protein metabolism disorders include aminoaciduria, organic acidemias, and urea cycle disorders, and are associated with poor feeding, vomiting, and ... 1st Test Other tests includes organic acidemias and urea cycle disorders; newborn or infant with possible family history, poor ...
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