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 |
463 |
| Diagnosis |
PHENYLKETONURIA (MIM 261600) |
| Gender |
m |
| Age of symptoms onset |
0 Day(s) |
| Age of diagnosis |
3.00 Day(s) |
| Found in newborn screening |
y |
| Diagnosis confirmed |
y |
| Country |
Switzerland |
| Ethnic origin |
Mother: Caucasian, Father: Caucasian |
| History |
The patient is the first child of non-consanguineous parents.
J. Inherit. Metab. Dis. 24 (2001), S. 29 |
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| Author |
Published Cases |
| Hospital |
Published Case |
| Coauthor(s) |
Nuoffer J-M, Thvny B, Romstad A, Blau N |
| Date of entry |
2001-12-13 21:53:31 |
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