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7. A protein complex in the brush-border membrane explains a Hartnup disorder allele. Kowalczuk S; Bröer A; Tietze N; Vanslambrouck JM; Rasko JE; Bröer S FASEB J; 2008 Aug; 22(8):2880-7. PubMed ID: 18424768 [TBL] [Abstract][Full Text] [Related]
8. The Hartnup phenotype: Mendelian transport disorder, multifactorial disease. Scriver CR; Mahon B; Levy HL; Clow CL; Reade TM; Kronick J; Lemieux B; Laberge C Am J Hum Genet; 1987 May; 40(5):401-12. PubMed ID: 3578280 [TBL] [Abstract][Full Text] [Related]
9. Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease. Pillai NR; Yubero D; Shayota BJ; Oyarzábal A; Ghosh R; Sun Q; Azamian MS; Arjona C; Brandi N; Palau F; Lalani SR; Artuch R; García-Cazorla A; Scott DA Am J Med Genet A; 2019 Dec; 179(12):2459-2468. PubMed ID: 31520464 [TBL] [Abstract][Full Text] [Related]
10. Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19. Seow HF; Bröer S; Bröer A; Bailey CG; Potter SJ; Cavanaugh JA; Rasko JE Nat Genet; 2004 Sep; 36(9):1003-7. PubMed ID: 15286788 [TBL] [Abstract][Full Text] [Related]
12. Hartnup disorder: polymorphisms identified in the neutral amino acid transporter SLC1A5. Potter SJ; Lu A; Wilcken B; Green K; Rasko JE J Inherit Metab Dis; 2002 Oct; 25(6):437-48. PubMed ID: 12555937 [TBL] [Abstract][Full Text] [Related]
13. Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder. Cheon CK; Lee BH; Ko JM; Kim HJ; Yoo HW Pediatr Neurol; 2010 May; 42(5):369-71. PubMed ID: 20399395 [TBL] [Abstract][Full Text] [Related]
14. A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder. Zheng Y; Zhou C; Huang Y; Bu D; Zhu X; Jiang W Int J Dermatol; 2009 Apr; 48(4):388-92. PubMed ID: 19335424 [TBL] [Abstract][Full Text] [Related]
15. Impaired nutrient signaling and body weight control in a Na+ neutral amino acid cotransporter (Slc6a19)-deficient mouse. Bröer A; Juelich T; Vanslambrouck JM; Tietze N; Solomon PS; Holst J; Bailey CG; Rasko JE; Bröer S J Biol Chem; 2011 Jul; 286(30):26638-51. PubMed ID: 21636576 [TBL] [Abstract][Full Text] [Related]
16. Intestinal absorption of two dipeptides in Hartnup disease. Asatoor AM; Cheng B; Edwards KD; Lant AF; Matthews DM; Milne MD; Navab F; Richards AJ Gut; 1970 May; 11(5):380-7. PubMed ID: 5428040 [TBL] [Abstract][Full Text] [Related]
17. Maternal Hartnup disorder. Mahon BE; Levy HL Am J Med Genet; 1986 Jul; 24(3):513-8. PubMed ID: 3728570 [TBL] [Abstract][Full Text] [Related]
18. Studies on intestinal absorption of amino acids and a dipeptide in a case of Hartnup disease. Navab F; Asatoor AM Gut; 1970 May; 11(5):373-9. PubMed ID: 4246731 [TBL] [Abstract][Full Text] [Related]
19. Transport of dibasic amino acids, cystine, and tryptophan by cultured human fibroblasts: absence of a defect in cystinuria and Hartnup disease. Groth U; Rosenberg LE J Clin Invest; 1972 Aug; 51(8):2130-42. PubMed ID: 5054467 [TBL] [Abstract][Full Text] [Related]
20. Homozygosity mapping to chromosome 5p15 of a gene responsible for Hartnup disorder. Nozaki J; Dakeishi M; Ohura T; Inoue K; Manabe M; Wada Y; Koizumi A Biochem Biophys Res Commun; 2001 Jun; 284(2):255-60. PubMed ID: 11394870 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]