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Patient case report | Main data
Patient ID 106
Diagnosis PHENYLKETONURIA (MIM 261600)
Gender f
Age of symptoms onset
Age of diagnosis 5.00 Day(s)
Found in newborn screening y
Diagnosis confirmed y
Country Germany
Ethnic origin Mother: German, Father: German
History BH4-test in the newborn (20 mg/kg/BW): phe before load: 22.7 mg/dl; 4 hours after BH4: 24.3 mg/dl; 8 hours after giving BH4: 24.9 mg/dl.
Author Friedrich Trefz
Hospital Childrens Hospital Reutlingen
Coauthor(s)
Date of entry 2001-03-31 00:00:00
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