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 |
161 |
| Diagnosis |
PROPIONIC ACIDEMIA (MIM 606054) |
| Gender |
f |
| Age of symptoms onset |
4 Day(s) |
| Age of diagnosis |
5.96 Day(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
After an uneventual pregnancy and birth, the infant became apathic at the fourth day of life. With a blood ammonia level of 200 micro-mol/l the infant was transferred to the University Childrens Hospital of Heidelberg, where the diagnosis of propionic acidemia was made. |
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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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