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Case report
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Patient case report | Main data
Patient ID 101
Diagnosis PHENYLKETONURIA (MIM 261600)
Gender m
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 in newborn-sreening. Early start of phe-restricted dietary treatment. BH4-test: no deficiency of tetrahydrobiopterine. Normal development. 06.2000 IQ of 104.
Author Friedrich Trefz
Hospital Childrens Hospital Reutlingen
Coauthor(s)
Date of entry 2001-03-31 00:00:00
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