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 |
238 |
| Diagnosis |
PHENYLKETONURIA (MIM 261600) |
| Gender |
m |
| Age of symptoms onset |
0 Day(s) |
| Age of diagnosis |
5.00 Day(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Saudi Arabia |
| Ethnic origin |
Mother: Arabian, Father: Arabian |
| History |
Diagnosis was made early after birth because there were a number of relatives suffering from PKU. However, dietary treatment was not optimal. IQ-testing could not be performed. The patient is integrated in the family, married and has a job. |
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| Author |
Friedrich Trefz |
| Hospital |
Childrens Hospital Reutlingen |
| Coauthor(s) |
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| Date of entry |
2001-07-12 12:36:26 |
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