Zobrazeno 1 - 10
of 158
pro vyhledávání: '"Pirulli, D"'
Autor:
Masè, G, Ros, S, Gemma, A, Bonfigli, L, Carraro, N, Cazzato, G, Rolfo, M, Zanconati, F, Sepcic, J, Jurjevic, A, Pirulli, D, Boniotto, M, Zezlina, S, Crovella, S, Amoroso, A *
Publikováno v:
In Journal of the Neurological Sciences 2001 191(1):11-18
Autor:
Biolo, Gianni, Amoroso, A., Savoldi, S., Bosutti, Alessandra, Martone, M., Pirulli, D., Bianco, F., ULIVI Sv BERTOK, S., Artero, M., Barazzoni, Rocco, Zanetti, Michela, Grassi, Gabriele, Guarnieri, Gianfranco, Panzetta, G.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::66548611790c4ab7283395bfa828f2b2
https://hdl.handle.net/11368/1689995
https://hdl.handle.net/11368/1689995
Autor:
Pirulli, D, Puzzer, D, Ferretini, C, Ferri, L, Crovella, Sergio, Amoroso, A, Marangella, M, Mazzola, G, Florian, Fiorella
Publikováno v:
Human genetics. 104(6)
Systematic screening using the SSCP technique followed by sequencing of bands with abnormal mobility derived from the AGXT exons of 15 unrelated Italian patients with primary hyperoxaluria type 1 (PH1) allowed us to characterize both the mutant allel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d70f3d0f10dc3b97adeb7d1acf9874c4
https://pubmed.ncbi.nlm.nih.gov/10453743
https://pubmed.ncbi.nlm.nih.gov/10453743
Autor:
Robbiano, Angela, Mandrile, Giorgia, Petrarulo, M., Pirulli, D., Zadro, C., Giachino, Daniela Francesca, Marangella, M., Amoroso, Antonio, DE MARCHI, Mario
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______970::29d5837172086e75a046058133e89dc9
http://hdl.handle.net/2318/70414
http://hdl.handle.net/2318/70414
Autor:
Robbiano, Angela, Mandrile, Giorgia, Giachino, Daniela Francesca, Petrarulo, M., Pirulli, D., Zadro, C., Marangella, M., Amoroso, Antonio, Peruzzi, L., Murer, L., Picca, S., DE MARCHI, Mario
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______970::c574038ce2a00df419a4731f47485460
http://hdl.handle.net/2318/69665
http://hdl.handle.net/2318/69665
Publikováno v:
Scopus-Elsevier
Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disorder caused by a deficiency of alanine-glyoxylate aminotransferase (AGT), which is encoded by a single copy gene (AGXT). Molecular diagnosis was used in conjunction with clinical, bioch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::13bd1333aa3a165ed8c994b767645584
http://hdl.handle.net/2318/1672376
http://hdl.handle.net/2318/1672376