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  1. 4th European Phenylketonuria Group Symposium

    ... Group Symposium Oral Presentation Highlights 48 hour BH4 loading test is cost-effective and reliable Dr Karen Anjema7 Dr Anjema presented a ...

  2. Oral communications

    ... Serap Sivri 2 , presenting recent work in Turkey. The BH4 loading test, along with molecular studies, is useful in the detection of responders ...

  3. 4th European Phenylketonuria Group (EPG) Symposium

    ... with severe neurological signs. Diagnosis is made by BH4 loading test, and by measuring pterins, biogenic amines and specific cell-enzyme ...

  4. Differential diagnosis of PKU and BH4 deficiency

    ... n n n ↓ n BH4 loading test +/- + + + + + *may be ...

  5. Dietetic research papers: The fruit and vegetable story continues! (MacDonald)

    ... phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis. Mol Genet Metab. 2012, 106: 264-8. ...

  6. 3rd European Phenylketonuria Group (EPG) Symposium - Advances and challenges in PKU

    ... Patricia Janeiro, Portugal The 48-hour BH4 -loading test, what does it tell us. A Dutch multicenter study Karen Anjema, ...

  7. SSIEM Congres report

    ... the management of patients 63% of centres perform a BH4 loading test as part of the diagnostic programme BH4 challenge is performed in 63% ...

  8. XXV ESPKU Conference

    ... Egeland stimulated the discovery of the first diagnostic test for PKU, specifically phenyl ketones in urine samples of her two ill ... the Netherlands) compared the older neonatal 8-24 hours BH4 loading test (BLT) with the current standard infantile 24-48 hours BLT to ...