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Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient. [electronic resource] by
- Ribes, A
- Briones, P
- Vilaseca, M A
- Lluch, M
- Rodes, M
- Maya, A
- Campistol, J
- Pascual, P
- Suormala, T
- Baumgartner, R
Producer: 19900607
In:
European journal of pediatrics vol. 149
Availability: No items available.
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112.
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Phenotype and genotype heterogeneity in Mediterranean citrullinemia. [electronic resource] by
- Vilaseca, M A
- Kobayashi, K
- Briones, P
- Lambruschini, N
- Campistol, J
- Tabata, A
- Alomar, A
- Rodès, M
- Lluch, M
- Saheki, T
Producer: 20020108
In:
Molecular genetics and metabolism vol. 74
Availability: No items available.
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Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency. [electronic resource] by
- Quintana, E
- Gort, L
- Busquets, C
- Navarro-Sastre, A
- Lissens, W
- Moliner, S
- Lluch, M
- Vilaseca, M A
- De Meirleir, L
- Ribes, A
- Briones, P
Producer: 20100914
In:
Clinical genetics vol. 77
Availability: No items available.
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