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 |
248 |
Diagnosis |
GLUTARIC ACIDEMIA I (MIM 231670) |
Gender |
f |
Age of symptoms onset |
5 Year(s) |
Age of diagnosis |
5.33 Year(s) |
Found in newborn screening |
n |
Diagnosis confirmed |
y |
Country |
Germany |
Ethnic origin |
Mother: German, Father: German |
History |
The child of non consanguinic parents developed normal until the age of 3 years. Then it presentated choreoathetosis.
After a follow up of 2 months the child remained moderately handicapped.
Pediatrics 1991;88:1194-1203
1956737 |
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Author |
Published Cases |
Hospital |
Published Case |
Coauthor(s) |
Hoffmann GF, Trefz FK, Barth PG, Boehles HJ, Biggemann B, Bremer HJ et al |
Date of entry |
2001-07-15 20:01:24 |
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