T. Bardelli

发表

Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient

J. Cunningham, E. Zammarchi, A. Morrone, 2003, Human Genetics.

Role of β‐galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1‐gangliosidosis

D. Nosi, A. Federico, V. Kimonis, 2005, Human mutation.

Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.

E. Zammarchi, M. Donati, A. Morrone, 2005, The American journal of pathology.

New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the beta-galactosidase/neuraminidase complex and the EBP-receptor.

E. Zammarchi, M. Donati, A. Morrone, 2004, Molecular genetics and metabolism.

Central-line associated bloodstream infections in a tertiary care children’s University hospital: a prospective study

S. Francini, S. De Masi, E. Chiappini, 2016, BMC Infectious Diseases.

Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers

O. Gabrielli, S. Feriozzi, E. Zammarchi, 2003, Journal of medical genetics.

β‐galactosidase gene mutations affecting the lysosomal enzyme and the elastin‐binding protein in GM1‐gangliosidosis patients with cardiac involvement

E. Zammarchi, M. Donati, A. Morrone, 2000, Human mutation.

Two novel genetic lesions and a common BH4-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia.

N. Blau, E. Zammarchi, M. Donati, 2002, Molecular genetics and metabolism.

Lymphocyte mRNA analysis of the ornithine transcarbamylase gene in Italian OTCD male patients and manifesting carriers: Identification of novel mutations

E. Zammarchi, A. Morrone, G. Biasucci, 2000, Human mutation.

[Two cases of solitary median maxillary central incisor syndrome].

M. de Martino, G. Poggi, T. Bardelli, 2010, Minerva Pediatrica.