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Patient case report | Main data
Patient ID 381
Diagnosis MAPLE SYRUP URINE DISEASE (MIM 248600)
Gender f
Age of symptoms onset 2 Day(s)
Age of diagnosis 6.00 Day(s)
Found in newborn screening n
Diagnosis confirmed y
Country Germany
Ethnic origin Mother: German, Father: German
History Daughter of healthy American parents. On her second day of life she presented with seizures. Increased levels of valine, leucine and isoleucine in urine.
Author Willy Lehnert
Hospital University Childrens Hospital Freiburg
Coauthor(s)
Date of entry 2001-10-09 17:08:31
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