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  1. ... patients may also be treated with sapropterin. Definition Phenylketonuria (PKU) is an autosomal-recessive inborn error of amino ... and exam Key diagnostic factors family history of PKU positive newborn screen for PKU Full details Other ...
    Source: BMJ Best Practice, BMJ Best Practice
    Information Type: Oppslagsverk, Oppslagsverk
  2. ... Patient leaflets Procedural videos Evidence Drugs English Português Phenylketonuria View PDF  Menu  Close Overview   Theory   Diagnosis   Management   ... diagnostic factors common VIEW ALL   family history of PKU Inherited as an autosomal-recessive disorder. There is ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  3. ... diagnostic factors common VIEW ALL   family history of PKU Inherited as an autosomal-recessive disorder. There is ... for this to occur. positive newborn screen for PKU Almost all patients are identified as the result ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  4. ... Patient leaflets Procedural videos Evidence Drugs English Português Phenylketonuria View PDF  Menu  Close Overview   Theory   Diagnosis   Management   ... K, et al. The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis. 2017 ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  5. ... Patient leaflets Procedural videos Evidence Drugs English Português Phenylketonuria View PDF  Menu  Close Overview   Theory   Diagnosis   Management   ... National Institutes of Health consensus development conference statement: ... and management. 2000 [internet publication]. http://consensus. ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  6. ... Patient leaflets Procedural videos Evidence Drugs English Português Phenylketonuria View PDF  Menu  Close Overview   Theory   Diagnosis   Management   ... National Institutes of Health consensus development conference statement: phenylketonuria - screening and management. 2000. http://consensus.nih.gov/ ( ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  7. ... Patient leaflets Procedural videos Evidence Drugs English Português Phenylketonuria View PDF  Menu  Close Overview   Theory   Diagnosis   Management   ... have had fractures with minimal trauma. Osteoporosis maternal PKU syndrome variable medium Hyperphenylalaninemia in a pregnant woman ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  8. ... Patient leaflets Procedural videos Evidence Drugs English Português Phenylketonuria View PDF  Menu  Close Overview   Theory   Diagnosis   Management   ... patients may also be treated with sapropterin. Definition Phenylketonuria (PKU) is an autosomal-recessive inborn error of ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  9. ... National Institutes of Health consensus development conference statement: phenylketonuria - screening and management. 2000 [internet publication]. http://consensus. ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  10. ... National Institutes of Health consensus development conference statement: phenylketonuria - screening and management. 2000. http://consensus.nih.gov/ ( ... nih.gov/pubmed/11581453?tool=bestpractice.com Classical PKU: a disorder associated with high levels of blood ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
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