These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. The Great Masquerade: Varying Manifestations of Lysinuric Protein Intolerance. Chakraborty S; Kaur R; Patra B; Meena JP; Kabra SK; Kabra M; Gupta N Indian J Pediatr; 2024 May; ():. PubMed ID: 38703326 [TBL] [Abstract][Full Text] [Related]
3. Lysinuric protein intolerance with novel mutations in solute carrier family 7A member 7 in a Chinese family. Pang Y; Huo F; Liu X; Fan Y; Zhang Z; Wu J; Wang Q Pediatr Investig; 2024 Jun; 8(2):149-153. PubMed ID: 38910857 [TBL] [Abstract][Full Text] [Related]
4. Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance. Dimitriou C; Saliba S; Peyrassol X; Ben Abbou W; Nassogne MC; Neugroschl C; Wiame E; De Leener A; Cassart M Clin Case Rep; 2020 Jun; 8(6):1010-1014. PubMed ID: 32577254 [TBL] [Abstract][Full Text] [Related]
5. A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance. Stroup BM; Marom R; Li X; Hsu CW; Chang CY; Truong LD; Dawson B; Grafe I; Chen Y; Jiang MM; Lanza D; Green JR; Sun Q; Barrish JP; Ani S; Christiansen AE; Seavitt JR; Dickinson ME; Kheradmand F; Heaney JD; Lee B; Burrage LC Hum Mol Genet; 2020 Aug; 29(13):2171-2184. PubMed ID: 32504080 [TBL] [Abstract][Full Text] [Related]
7. Respiratory manifestations in patients with inherited metabolic diseases. Santamaria F; Montella S; Mirra V; De Stefano S; Andria G; Parenti G Eur Respir Rev; 2013 Dec; 22(130):437-53. PubMed ID: 24293461 [TBL] [Abstract][Full Text] [Related]
8. In Lysinuric Protein Intolerance system y+L activity is defective in monocytes and in GM-CSF-differentiated macrophages. Barilli A; Rotoli BM; Visigalli R; Bussolati O; Gazzola GC; Kadija Z; Rodi G; Mariani F; Ruzza ML; Luisetti M; Dall'Asta V Orphanet J Rare Dis; 2010 Nov; 5():32. PubMed ID: 21110863 [TBL] [Abstract][Full Text] [Related]
9. Successful whole lung lavage in pulmonary alveolar proteinosis secondary to lysinuric protein intolerance: a case report. Ceruti M; Rodi G; Stella GM; Adami A; Bolongaro A; Baritussio A; Pozzi E; Luisetti M Orphanet J Rare Dis; 2007 Mar; 2():14. PubMed ID: 17386098 [TBL] [Abstract][Full Text] [Related]
10. Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance. Santamaria F; Brancaccio G; Parenti G; Francalanci P; Squitieri C; Sebastio G; Dionisi-Vici C; D'argenio P; Andria G; Parisi F J Pediatr; 2004 Aug; 145(2):268-72. PubMed ID: 15289783 [TBL] [Abstract][Full Text] [Related]
11. [Clinical, biological and genetic heterogeneity of the inborn errors of pulmonary surfactant metabolism: SP-B deficiency and alveolar proteinosis]. Tredano M; Blic JD; Griese M; Fournet JC; Elion J; Bahuau M Ann Biol Clin (Paris); 2001; 59(2):131-48. PubMed ID: 11282516 [TBL] [Abstract][Full Text] [Related]
12. Bronchoalveolar lavage in other interstitial lung diseases. Costabel U; Guzman J; Bonella F; Oshimo S Semin Respir Crit Care Med; 2007 Oct; 28(5):514-24. PubMed ID: 17975779 [TBL] [Abstract][Full Text] [Related]
13. Abnormal pulmonary macrophages in lysinuric protein intolerance. Ultrastructural, morphometric, and x-ray microanalytic study. Parto K; Mäki J; Pelliniemi LJ; Simell O Arch Pathol Lab Med; 1994 May; 118(5):536-41. PubMed ID: 8192561 [TBL] [Abstract][Full Text] [Related]
14. Pulmonary alveolar proteinosis and glomerulonephritis in lysinuric protein intolerance: case reports and autopsy findings of four pediatric patients. Parto K; Kallajoki M; Aho H; Simell O Hum Pathol; 1994 Apr; 25(4):400-7. PubMed ID: 8163273 [TBL] [Abstract][Full Text] [Related]
15. [Unusual pulmonary presentation of lysinuric protein intolerance]. Berthoux E; Durieu I; Guffon N; Sivova N; Gamondes D; Cordier JF; Cottin V Rev Mal Respir; 2010 Sep; 27(7):770-4. PubMed ID: 20863980 [TBL] [Abstract][Full Text] [Related]