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 |
1090 |
Diagnosis |
PROPIONIC ACIDEMIA (MIM 606054) |
Gender |
f |
Age of symptoms onset |
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Age of diagnosis |
1.00 Day(s) |
Found in newborn screening |
n |
Diagnosis confirmed |
y |
Country |
Germany |
Ethnic origin |
Mother: unknown, Father: Turkish |
History |
Sister of twins, both afflicted with propionic acidemia, both deceased, one at 7 months, the other at 27 months of age.
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Author |
Friedrich Trefz |
Hospital |
Childrens Hospital Reutlingen |
Coauthor(s) |
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Date of entry |
2011-06-06 11:31:57 |
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