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Mental Retardation
Visual Distubances
Photophobia
Thomas Mitchell
Jesse Bulley
1.Baron, D.N., et al., Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino-aciduria, and other bizarre biochemical features. Lancet, 1956. 271(6940): p. 421-8.
2.Broer, S., J.A. Cavanaugh, and J.E. Rasko, Neutral amino acid transport in epithelial cells and its malfunction in Hartnup disorder. Biochem Soc Trans, 2005. 33(Pt 1): p. 233-6.
3.Galadari, E., S. Hadi, and K. Sabarinathan, Hartnup disease. Int J Dermatol, 1993. 32(12): p. 904.
4.Seow, H.F., et al., Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19. Nat Genet, 2004. 36(9): p. 1003-7.
5.Kleta, R., et al., Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. Nat Genet, 2004. 36(9): p. 999-1002.
6.Zheng, Y., et al., A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder. Int J Dermatol, 2009. 48(4): p. 388-92.
7.Nassl, A.M., et al., Amino acid absorption and homeostasis in mice lacking the intestinal peptide transporter PEPT1. Am J Physiol Gastrointest Liver Physiol, 2011. 301(1): p. G128-37.
8.Milovanovic, D.D., A clinicobiochemical study of tryptophan and other plasma and urinary amino acids in the family with Hartnup disease. Adv Exp Med Biol, 2003. 527: p. 325-35.
9.Scriver, C.R., et al., The Hartnup phenotype: Mendelian transport disorder, multifactorial disease. Am J Hum Genet, 1987. 40(5): p. 401-12.
10.Camargo, S.M., D. Bockenhauer, and R. Kleta, Aminoacidurias: Clinical and molecular aspects. Kidney Int, 2008. 73(8): p. 918-25.
Autosomal Recessive
Diverse clinical symptoms
High-protein diet
Renal aminoaciduria
HPLC
Sunlight avoidance
Observed reduced clinical penetrance
Nicotinamide supplementation
Admin of tryptophan
Bess Stewart
Tenele Smith