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 |
464 |
| Diagnosis |
PHENYLKETONURIA (MIM 261600) |
| Gender |
m |
| Age of symptoms onset |
0 Day(s) |
| Age of diagnosis |
0.00 Day(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
The infant is BH4-responsive. Cofactor deficiency was excluded by normal urinary pterin concentrations, normal DHPR activity in erythrocates and normal neurotransmitters in CSF.
Cave: Sex and dates not mentioned in abstract!
J. Inherit. Metab. Dis. 24(2001), S.29 |
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| Author |
Published Cases |
| Hospital |
Published Case |
| Coauthor(s) |
Steinfeld R, Kohlsch|tter A, Zschocke J, Lindner M, Ullrich K, Lukacs Z |
| Date of entry |
2001-12-13 22:00:06 |
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