Claudia Carducci | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency	EUROPEAN JOURNAL OF PEDIATRICS	2017
Predictability and inconsistencies in the cognitive outcome of early treated PKU patients	JOURNAL OF INHERITED METABOLIC DISEASE	2017
Psychiatric disorders in adolescent and young adult patients with phenylketonuria	MOLECULAR GENETICS AND METABOLISM	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
Secondary pterins alteration in patients with phenylalanine hydroxylase deficit	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
Development of a new LC-MS/MS method for the determination of biopterin and neopterin in dried blood spot	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
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
The outcome of white matter abnormalities in early treated phenylketonuric patients. A retrospective longitudinal long-term study	MOLECULAR GENETICS AND METABOLISM	2015
Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency	MOLECULAR GENETICS AND METABOLISM	2015
Granulocytic myeloid derived suppressor cells expansion during active pulmonary tuberculosis is associated with high nitric oxide plasma level	PLOS ONE	2015
Psychiatric disturbances in adolescent and adult phenylketonuric patients	JOURNAL OF INHERITED METABOLIC DISEASE	2015
Transient hyperphenylalaninemia due to heterozygous mutation in pyruvoyltetrahydropterin synthase (PTS) gene	JOURNAL OF INHERITED METABOLIC DISEASE	2015
Optic neuropathy in an adult PKU patient during long term follow-up	JOURNAL OF INHERITED METABOLIC DISEASE	2015