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Case report
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Patient case report | Main data
Patient ID 84
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 Increased phe of 26,4 mg/dl in newborn-screening. No response on tetrahydrobiopterin. Early start of phenylalanine restricted diet, normal development. IQ of 104 at 6 years of age.
Author Friedrich Trefz
Hospital Childrens Hospital Reutlingen
Coauthor(s)
Date of entry 2001-03-31 00:00:00
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