Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort.

Funghini, S; Thusberg, J; Spada, M; Gasperini, S; Parini, R; Ventura, L; Meli, C; De Cosmo, L; Sibilio, M; Mooney, S D; Guerrini, R; Donati, M A; Morrone, A

Funghini, S; Thusberg, J; Spada, M; Gasperini, S; Parini, R; Ventura, L; Meli, C; De Cosmo, L; Sibilio, M; Mooney, S D; Guerrini, R; Donati, M A; Morrone, A.

Affiliation

Funghini S; Metabolic and Muscular Unit, Clinic of Paediatric Neurology, Meyer Children's Hospital, Florence, Italy.

Gene ; 493(2): 228-34, 2012 Feb 10.

Article in En | MEDLINE | ID: mdl-22173106

Subject(s)

Carbamoyl-Phosphate Synthase (Ammonia)/genetics; Carbamoyl-Phosphate Synthase I Deficiency Disease/genetics; Adolescent; Adult; Carbamoyl-Phosphate Synthase I Deficiency Disease/diagnosis; Child, Preschool; Cohort Studies; Female; Humans; Infant; Infant, Newborn; Italy; Male; Mutation

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Carbamoyl-Phosphate Synthase (Ammonia) / Carbamoyl-Phosphate Synthase I Deficiency Disease Type of study: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limits: Adolescent / Adult / Child, preschool / Female / Humans / Infant / Male / Newborn Country/Region as subject: Europa Language: En Journal: Gene Year: 2012 Document type: Article

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