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343.
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345.
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E1 pyruvate dehydrogenase deficiency in a child with motor neuropathy. [electronic resource] by
- Bonne, G
- Benelli, C
- De Meirleir, L
- Lissens, W
- Chaussain, M
- Diry, M
- Clot, J P
- Ponsot, G
- Geoffroy, V
- Leroux, J P
Producer: 19930423
In:
Pediatric research vol. 33
Availability: No items available.
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346.
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Molecular genetic analysis of a female patient with pyruvate dehydrogenase deficiency: detection of a new mutation and differential expression of mutant gene product in cultured cells. [electronic resource] by
- Ito, M
- Naito, E
- Yokota, I
- Takeda, E
- Matsuda, J
- Hirose, M
- Sejima, H
- Aiba, H
- Hojo, H
- Kuroda, Y
Producer: 19960423
In:
Journal of inherited metabolic disease vol. 18
Availability: No items available.
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347.
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348.
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349.
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350.
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351.
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352.
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353.
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354.
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355.
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356.
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Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency. [electronic resource] by
- Lissens, W
- De Meirleir, L
- Seneca, S
- Benelli, C
- Marsac, C
- Poll-The, B T
- Briones, P
- Ruitenbeek, W
- van Diggelen, O
- Chaigne, D
- Ramaekers, V
- Liebaers, I
Producer: 19960806
In:
Human mutation vol. 7
Availability: No items available.
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357.
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