Giulia Cardillo

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Hyperphenylalaninemia (HPA) comprises a group of autosomal recessive disorders mainly caused by phenylalanine hydroxylase (PAH) gene mutations. We investigated PAH mutations in 126 HPA patients from Southern Italy who were identified in a neonatal screening program. The promoter, coding and exon-flanking intronic sequences of the PAH gene were amplified and(More)
BACKGROUND Mutation epidemiology in each ethnic group is a crucial step of strategies for cystic fibrosis (CF) diagnosis and counselling. To date, the scanning of the whole coding region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene permits to identify about 90% of alleles from patients bearing CF and a lower percentage in patients(More)
The Authors fully share cricitisms voiced in international literature to NSCLC longsurvivors, in particular those remarkes related to advanced disease patients following various anti-tumor treatments ( mostly multimodal). To this point, even the NCCN version 3.2014 guidelines prove inadequate as they mostly focus on longsurvivors post-NSCLC early stage(More)
This paper deals with the Environmental Monitoring Plan concerning the catchment work project of the Pertuso karst spring, which is going to be exploited to supply an important drinking water network in the south part of Roma district. The Pertuso Spring, located in the Upper Valley of the Aniene River, is the main outlet of a large karst aquifer, which is(More)
The adjuvant therapy in NSCLC Stage IA still remains a controversial issue even in the interdisciplinary decision making after limited resections of the neoplasm as an alternative to lobectomy. The Authors accept from literature that this mainly concerns specific sub-group of patients, the istopathological post-resection diagnosis of whom highlights(More)
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