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 |
389 |
| Diagnosis |
MAPLE SYRUP URINE DISEASE (MIM 248600) |
| Gender |
m |
| Age of symptoms onset |
5 Day(s) |
| Age of diagnosis |
10.00 Day(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: Lebanese, Father: Lebanese |
| History |
6th of 6 children of healthy Lebanese parents. The boy was born spontaneously after uncomplicated pregnancy.
Two siblings died in their first months of life.
Admitted to hospital, the boy presented with seizures, areflexia and hypotonia. |
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| Author |
Willy Lehnert |
| Hospital |
University Childrens Hospital Freiburg |
| Coauthor(s) |
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| Date of entry |
2001-10-21 16:53:18 |
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