Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

167 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.
Feliubadaló L, Font M, Purroy J, Rousaud F, Estivill X, Nunes V, Golomb E, Centola M, Aksentijevich I, Kreiss Y, Goldman B, Pras M, Kastner DL, Pras E, Gasparini P, Bisceglia L, Beccia E, Gallucci M, de Sanctis L, Ponzone A, Rizzoni GF, Zelante L, Bassi MT, George AL Jr, Manzoni M, De Grandi A, Riboni M, Endsley JK, Ballabio A, Borsani G, Reig N, Fernández E, Estévez R, Pineda M, Torrents D, Camps M, Lloberas J, Zorzano A, Palacín M; International Cystinuria Consortium. Feliubadaló L, et al. Among authors: ponzone a. Nat Genet. 1999 Sep;23(1):52-7. doi: 10.1038/12652. Nat Genet. 1999. PMID: 10471498
Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.
Dello Strologo L, Pras E, Pontesilli C, Beccia E, Ricci-Barbini V, de Sanctis L, Ponzone A, Gallucci M, Bisceglia L, Zelante L, Jimenez-Vidal M, Font M, Zorzano A, Rousaud F, Nunes V, Gasparini P, Palacín M, Rizzoni G. Dello Strologo L, et al. Among authors: ponzone a. J Am Soc Nephrol. 2002 Oct;13(10):2547-53. doi: 10.1097/01.asn.0000029586.17680.e5. J Am Soc Nephrol. 2002. PMID: 12239244
Genetic history of phenylketonuria mutations in Italy.
Dianzani I, Giannattasio S, de Sanctis L, Marra E, Ponzone A, Camaschella C, Piazza A. Dianzani I, et al. Among authors: ponzone a. Am J Hum Genet. 1994 Oct;55(4):851-3. Am J Hum Genet. 1994. PMID: 7942862 Free PMC article. No abstract available.
167 results