Main data
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Molecular genetics
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Lab findings
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Symptoms
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Diet/drugs
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Therapy/development
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References
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Disease information
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Gene information
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Pathway information
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Substance information
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Data management
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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. |
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Author |
Willy Lehnert |
Hospital |
University Childrens Hospital Freiburg |
Coauthor(s) |
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Date of entry |
2001-10-09 17:08:31 |
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