Carla Carducci

Pubblicazioni

Titolo Pubblicato in Anno
Successful pregnancy in a patient with l-amino acid decarboxylase deficiency. therapeutic management and clinical outcome MOVEMENT DISORDERS CLINICAL PRACTICE 2018
Development of a new UPLC-ESI-MS/MS method for the determination of biopterin and neopterin in dried blood spot CLINICA CHIMICA ACTA 2017
Pyridoxine-5'-phosphate oxidase (pnpo) deficiency. clinical and biochemical alterations associated with the c.347g>a (pp. arg116gln) mutation MOLECULAR GENETICS AND METABOLISM 2017
Predictability and inconsistencies in the cognitive outcome of early treated PKU patients JOURNAL OF INHERITED METABOLIC DISEASE 2017
Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO) DATA IN BRIEF 2017
Psychiatric disorders in adolescent and young adult patients with phenylketonuria MOLECULAR GENETICS AND METABOLISM 2016
Vulnerability and resilience to phenylalanine in PKU patients. JOURNAL OF INHERITED METABOLIC DISEASE 2016
Abnormal CSF phenylalanine level in patients presenting with disordersof tetrahydrobiopterin (BH4) metabolism with hyperphenylalaninemia JOURNAL OF INHERITED METABOLIC DISEASE 2016
Expanded phenotype in creatine transporter deficiency: identification of two novel mutations correlated with mild clinical presentation JOURNAL OF INHERITED METABOLIC DISEASE 2016
Aromatic L-Amino Acid Decarboxylase (AADC) deficiency in a child with an early myopathic onset JOURNAL OF INHERITED METABOLIC DISEASE 2016
Safety and efficacy of Rotigotine in 7 patients with monoaminergic neurotransmitter deficiency JOURNAL OF INHERITED METABOLIC DISEASE 2016
2 siblings with a new genotype of GAMT deficiency and response to sodium benzoate therapy JOURNAL OF INHERITED METABOLIC DISEASE 2016
Genotype-phenotype correlation study through protein model of 3- methylcrotonyl-CoA carboxylase JOURNAL OF INHERITED METABOLIC DISEASE 2016
Outcome in short chain acyl-CoA dehydrogenase deficiency (SCADD) detected by newborn screening (NBS) JOURNAL OF INHERITED METABOLIC DISEASE 2016
Neurocognitive and neuroimaging outcome of early treated young adult PKU patients: A longitudinal study MOLECULAR GENETICS AND METABOLISM 2015
Multiple factors influencing the incidence of congenital hypothyroidism detected by neonatal screening HORMONE RESEARCH IN PAEDIATRICS 2015
Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype? JIMD REPORTS 2015
Incidence of congenital hypothyroidism in the Autonomous Province of Bolzano: Benefit of increased iodine intake JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION 2015
Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency MOLECULAR GENETICS AND METABOLISM 2015
Psychiatric disturbances in adolescent and adult phenylketonuric patients JOURNAL OF INHERITED METABOLIC DISEASE 2015

Progetti di Ricerca

© Università degli Studi di Roma "La Sapienza" - Piazzale Aldo Moro 5, 00185 Roma