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 |
707 |
| Diagnosis |
GLUTARIC ACIDEMIA I (MIM 231670) |
| Gender |
f |
| Age of symptoms onset |
14 Month(s) |
| Age of diagnosis |
13.96 Month(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Turkey |
| Ethnic origin |
Mother: Turkish, Father: Turkish |
| History |
The twin femalse were admitted with acute encephalopathic crisis symptoms 3 days after immunization for poliovirus, with limitation of motion of the right hand and arm. Magnetic resonance imaging findings revealed hyperintensity in the putamen, head of the left caudate nucleus, and globus pallidus, periventricular white matter, arachnoid casts in bilateral temporal regions, and enlargement of the sysvian fissures. |
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| Author |
Published Cases |
| Hospital |
Published Case |
| Coauthor(s) |
Alkan A, Baysal MD, Yakinci C, Sigirci A, Kutlu R |
| Date of entry |
2003-01-08 21:02:42 |
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