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Case report
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Molecular genetics  Molecular genetics
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Patient case report | Main data
Patient ID 512
Diagnosis PHENYLKETONURIA (MIM 261600)
Gender m
Age of symptoms onset
Age of diagnosis 7.00 Day(s)
Found in newborn screening y
Diagnosis confirmed y
Country Germany
Ethnic origin Mother: German, Father: German
History The patient was found in the newborn screening program with elevated levels of phenylalanine (1320 micro-mol/ l). Treatmwnt with phe-restricted diet and amino acid mixture lead to normal development.
Author Friedrich Trefz
Hospital Childrens Hospital Reutlingen
Coauthor(s)
Date of entry 2002-02-14 11:48:21
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