Succinic semialdehyde dehydrogenase deficiency: Clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation [4]

P. Blasi; F. Palmerio; S. Caldarola; C. Rizzo; R. Carrozzo; K. M. Gibson; A. Novelletto; F. Deodato; M. Cappa; C. Dionisi-Vici; Patrizia Malaspina

doi:10.1111/j.1399-0004.2006.00579.x

Succinic semialdehyde dehydrogenase deficiency: Clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation [4]

P. Blasi, F. Palmerio, S. Caldarola, C. Rizzo, R. Carrozzo, K. M. Gibson, A. Novelletto, F. Deodato, M. Cappa, C. Dionisi-Vici, Patrizia Malaspina

Ospedale Pediatrico Bambino Gesu

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	294-296
Number of pages	3
Journal	Clinical Genetics
Volume	69
Issue number	3
DOIs	https://doi.org/10.1111/j.1399-0004.2006.00579.x
Publication status	Published - Mar 2006

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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Blasi, P., Palmerio, F., Caldarola, S., Rizzo, C., Carrozzo, R., Gibson, K. M., Novelletto, A., Deodato, F., Cappa, M., Dionisi-Vici, C., & Malaspina, P. (2006). Succinic semialdehyde dehydrogenase deficiency: Clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation [4]. Clinical Genetics, 69(3), 294-296. https://doi.org/10.1111/j.1399-0004.2006.00579.x

Blasi, P, Palmerio, F, Caldarola, S, Rizzo, C, Carrozzo, R, Gibson, KM, Novelletto, A, Deodato, F, Cappa, M, Dionisi-Vici, C & Malaspina, P 2006, 'Succinic semialdehyde dehydrogenase deficiency: Clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation [4]', Clinical Genetics, vol. 69, no. 3, pp. 294-296. https://doi.org/10.1111/j.1399-0004.2006.00579.x

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title = "Succinic semialdehyde dehydrogenase deficiency: Clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation [4]",

author = "P. Blasi and F. Palmerio and S. Caldarola and C. Rizzo and R. Carrozzo and Gibson, {K. M.} and A. Novelletto and F. Deodato and M. Cappa and C. Dionisi-Vici and Patrizia Malaspina",

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AU - Rizzo, C.

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AU - Gibson, K. M.

AU - Novelletto, A.

AU - Deodato, F.

AU - Cappa, M.

AU - Dionisi-Vici, C.

AU - Malaspina, Patrizia

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Succinic semialdehyde dehydrogenase deficiency: Clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation [4]

ASJC Scopus subject areas

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