Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine.

Martinelli, Diego; Häberle, Johannes; Rubio, Vicente; Giunta, Cecilia; Hausser, Ingrid; Carrozzo, Rosalba; Gougeard, Nadine; Marco-Marín, Clara; Goffredo, Bianca M; Meschini, Maria Chiara; Bevivino, Elsa; Boenzi, Sara; Colafati, Giovanna Stefania; Brancati, Francesco; Baumgartner, Matthias R; Dionisi-Vici, Carlo

Martinelli, Diego; Häberle, Johannes; Rubio, Vicente; Giunta, Cecilia; Hausser, Ingrid; Carrozzo, Rosalba; Gougeard, Nadine; Marco-Marín, Clara; Goffredo, Bianca M; Meschini, Maria Chiara; Bevivino, Elsa; Boenzi, Sara; Colafati, Giovanna Stefania; Brancati, Francesco; Baumgartner, Matthias R; Dionisi-Vici, Carlo.

Affiliation

Martinelli D; Division of Metabolism, Bambino Gesù Children's Hospital, Piazza Sant'Onofrio, 4, 00165 Rome, Italy. diego.martinelli@opbg.net

J Inherit Metab Dis ; 35(5): 761-76, 2012 Sep.

Article in En | MEDLINE | ID: mdl-22170564

Subject(s)

Amino Acid Metabolism, Inborn Errors/diagnosis; Amino Acid Metabolism, Inborn Errors/therapy; Arginine/therapeutic use; Ornithine-Oxo-Acid Transaminase/deficiency; Amino Acid Metabolism, Inborn Errors/enzymology; Amino Acid Metabolism, Inborn Errors/metabolism; Amino Acid Sequence; Humans; Infant; Male; Models, Molecular; Molecular Sequence Data; Ornithine-Oxo-Acid Transaminase/metabolism; Phenotype

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Full text: 1 Database: MEDLINE Main subject: Ornithine-Oxo-Acid Transaminase / Arginine / Amino Acid Metabolism, Inborn Errors Language: En Journal: J Inherit Metab Dis Year: 2012 Type: Article Affiliation country: Italy

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