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Page 1
Hartnup Disease.
Hashmi MS, Gupta V. Hashmi MS, et al. 2023 Feb 13. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 Jan–. 2023 Feb 13. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 Jan–. PMID: 32644502 Free Books & Documents.
It includes acidic, basic, and neutral amino acids. Hartnup disease is an autosomal recessive inherited nutritional disorder due to decreased absorption of neutral amino acids from the gut and kidney. ...
It includes acidic, basic, and neutral amino acids. Hartnup disease is an autosomal recessive inherited nutritional disorder d …
[Hartnup disease].
Takita H. Takita H. Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):565-8. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9645135 Review. Japanese. No abstract available.
Hartnup disease.
Patel AB, Prabhu AS. Patel AB, et al. Indian J Dermatol. 2008 Jan;53(1):31-2. doi: 10.4103/0019-5154.39740. Indian J Dermatol. 2008. PMID: 19967017 Free PMC article.
Hartnup disease.
Milne MD. Milne MD. Biochem J. 1969 Feb;111(3):3P-4P. doi: 10.1042/bj1110003p. Biochem J. 1969. PMID: 4237364 Free PMC article. No abstract available.
Hartnup disease.
BORRIE PF, LEWIS CA. BORRIE PF, et al. Proc R Soc Med. 1962 Mar;55(3):231-2. doi: 10.1177/003591576205500313. Proc R Soc Med. 1962. PMID: 13871450 Free PMC article. No abstract available.
Hartnup disease.
Galadari E, Hadi S, Sabarinathan K. Galadari E, et al. Int J Dermatol. 1993 Dec;32(12):904. doi: 10.1111/j.1365-4362.1993.tb01415.x. Int J Dermatol. 1993. PMID: 8125700 No abstract available.
Hartnup disease.
Oyanagi K, Takagi M, Kitabatake M, Nakao T. Oyanagi K, et al. Tohoku J Exp Med. 1967 Apr;91(4):383-95. doi: 10.1620/tjem.91.383. Tohoku J Exp Med. 1967. PMID: 4228120 Free article. No abstract available.
New aspects for the brain in Hartnup disease based on mining of high-resolution cellular mRNA expression data for SLC6A19.
Kravetz Z, Schmidt-Kastner R. Kravetz Z, et al. IBRO Neurosci Rep. 2023 Mar 25;14:393-397. doi: 10.1016/j.ibneur.2023.03.010. eCollection 2023 Jun. IBRO Neurosci Rep. 2023. PMID: 37101820 Free PMC article. Review.
Hartnup disease is an autosomal recessive, metabolic disorder caused by mutations of the neutral amino acid transporter, SLC6A19/B0AT1. ...When transcriptomics data for ACE2 and its partner proteins were examined, a previously unrecognized expression of Slc6a19 mRNA …
Hartnup disease is an autosomal recessive, metabolic disorder caused by mutations of the neutral amino acid transporter, SLC6A …
Hartnup disease presenting as hereditary spastic paraplegia and severe peripheral neuropathy.
Wang X, Li XY, Piao Y, Yuan G, Lin Y, Chen H, Wang Z, Li C, Wang C. Wang X, et al. Am J Med Genet A. 2022 Jan;188(1):237-242. doi: 10.1002/ajmg.a.62475. Epub 2021 Aug 30. Am J Med Genet A. 2022. PMID: 34459558
Hartnup disease cases were rare, and the genotype-phenotype correlation was not fully understood. Here we reported two unrelated young men diagnosed as Hartnup disease, who carried novel compound heterozygote mutations in the SLC6A19 gene and presented …
Hartnup disease cases were rare, and the genotype-phenotype correlation was not fully understood. Here we reported two unrelat …
Hartnup disease-causing SLC6A19 mutations lead to B0AT1 aberrant trafficking and ACE2 mis-localisation implicating the endoplasmic reticulum protein quality control.
Alkhofash NF, Ali BR. Alkhofash NF, et al. Front Cell Dev Biol. 2025 Aug 7;13:1589534. doi: 10.3389/fcell.2025.1589534. eCollection 2025. Front Cell Dev Biol. 2025. PMID: 40852587 Free PMC article.
Mutations in SLC6A19 are implicated in Hartnup disease, a metabolic disorder characterized by defective amino acid transport. However, the cellular mechanisms underlying Hartnup disease-causing mutations' impact on B0AT1 and ACE2 function remain unclea …
Mutations in SLC6A19 are implicated in Hartnup disease, a metabolic disorder characterized by defective amino acid transport. …
293 results