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 |
125 |
| Diagnosis |
MAPLE SYRUP URINE DISEASE (MIM 248600) |
| Gender |
m |
| Age of symptoms onset |
6 Day(s) |
| Age of diagnosis |
3.71 Week(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: Italian, Father: Italian |
| History |
Early symptoms of metabolic decompensation, diagnosis was made in the
selective screening program at the
University Childrens Hospital of Heidelberg,
Germany.
Frequent decompensations during infections, showed some hyperactivity, otherwise normal development. |
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| Author |
Friedrich Trefz |
| Hospital |
Childrens Hospital Reutlingen |
| Coauthor(s) |
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| Date of entry |
2001-03-31 00:00:00 |
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