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Office
Via Pansini 5, 80131 Naples, ITALY
Louviers, CO 80131Fax+1 713-798-1144- Is this information wrong?
Education & Training
- Baylor College of MedicineResidency, Medical Genetics and Genomics, 2005 - 2007
- University of Naples Faculty of MedicineClass of 1997
Clinical Trials
- Use of Phenylbutyrate Therapy for Patients With Pyruvate Dehydrogenase Complex Deficiency. Start of enrollment: 2018 Oct 01
- Gene Therapy for Severe Crigler Najjar Syndrome Start of enrollment: 2018 Mar 19
Roles: Principal Investigator
Publications & Presentations
PubMed
- 4 citationsEpilepsy in KAT6A syndrome: Description of two individuals and revision of the literature.Serena Troisi, Silvia Maitz, Mariasavina Severino, Alice Spano, Gerarda Cappuccio, Nicola Brunetti-Pierri, Annalaura Torella, Vincenzo Nigro, Tudp, Leonilda Bilo, Anto...> ;European Journal of Medical Genetics. 2022 Jan 1
- 21 citationsAlpha-1 antitrypsin deficiency: a re-surfacing adult liver disorderMalin Fromme, Carolin V. Schneider, Christian Trautwein, Nicola Brunetti-Pierri, Pavel Strnad> ;Journal of Hepatology. 2021 Nov 27
- 11 citationsLong-term efficacy of T3 analogue Triac in children and adults with MCT8 deficiency: a real-life retrospective cohort study.Ferdy S van Geest, Stefan Groeneweg, Erica L T van den Akker, Iuliu Bacos, D Barca, Sjoerd A A van den Berg, Enrico Bertini, Doris Brunner, Nicola Brunetti-Pierri, Mar...> ;The Journal of Clinical Endocrinology and Metabolism. 2021 Oct 22
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Grant Support
- Adeno Associated Virus (AAV) Gene Therapy For Mucopolysaccharidosis Type IINational Center For Research Resources2010–2011
- Hdad-Mediated Gene Therapy For Hemophilia BNational Heart, Lung, And Blood Institute2009
- Adeno Associated Virus (AAV) Gene Therapy For Mucopolysaccharidosis Type IINational Center For Research Resources2008–2009
- Hdad-Mediated Gene Therapy For Hemophilia BNational Heart, Lung, And Blood Institute2007–2008
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