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Quoted phrase not found in phrase index: "Neutral 1 amino acid transport defect"
Page 1
Ataxia.
Winchester S, Singh PK, Mikati MA. Winchester S, et al. Handb Clin Neurol. 2013;112:1213-7. doi: 10.1016/B978-0-444-52910-7.00043-X. Handb Clin Neurol. 2013. PMID: 23622331 Review.
., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, tumor (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e …
., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, tumor (posterior fossa or cerebellum), brainste …
Neutral amino acid transport in epithelial cells and its malfunction in Hartnup disorder.
Bröer S, Cavanaugh JA, Rasko JE. Bröer S, et al. Biochem Soc Trans. 2005 Feb;33(Pt 1):233-6. doi: 10.1042/BST0330233. Biochem Soc Trans. 2005. PMID: 15667315 Review.
Hartnup disorder is an autosomal recessive abnormality of renal and gastrointestinal neutral amino acid transport. ...A total of ten mutations have been identified in SLC6A19 that co-segregate with disease in the predicted recessive manner, with the majority …
Hartnup disorder is an autosomal recessive abnormality of renal and gastrointestinal neutral amino acid transport. ...A total of ten …
Hartnup disorder: polymorphisms identified in the neutral amino acid transporter SLC1A5.
Potter SJ, Lu A, Wilcken B, Green K, Rasko JE. Potter SJ, et al. J Inherit Metab Dis. 2002 Oct;25(6):437-48. doi: 10.1023/a:1021286714582. J Inherit Metab Dis. 2002. PMID: 12555937
Hartnup disorder is an inborn error of renal and gastrointestinal neutral amino acid transport. ...Sequencing of the coding region of SLC1A5 in Hartnup patients revealed two coding region polymorphisms. These mutations did not alter the predicted amino acid s …
Hartnup disorder is an inborn error of renal and gastrointestinal neutral amino acid transport. ...Sequencing of the coding region of …
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. Groth U, et al. J Clin Invest. 1972 Aug;51(8):2130-42. doi: 10.1172/JCI107020. J Clin Invest. 1972. PMID: 5054467 Free PMC article.
Transport of lysine, arginine, cystine, and tryptophan was studied in cultured skin fibroblasts from normal controls and from patients with cystinuria and Hartnup disease. Each of these amino acids was accumulated against concentration gradients by energy-dependent, …
Transport of lysine, arginine, cystine, and tryptophan was studied in cultured skin fibroblasts from normal controls and from patients with …
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. Seow HF, et al. Nat Genet. 2004 Sep;36(9):1003-7. doi: 10.1038/ng1406. Epub 2004 Aug 1. Nat Genet. 2004. PMID: 15286788
We identified six mutations in SLC6A19 that cosegregated with disease in the predicted recessive manner, with most affected individuals being compound heterozygotes. The disease-causing mutations that we tested reduced neutral amino acid transport function in …
We identified six mutations in SLC6A19 that cosegregated with disease in the predicted recessive manner, with most affected in …
Hartnup disease in New South Wales.
[No authors listed] [No authors listed] Med J Aust. 1977 Aug 13;2(7):201-2. doi: 10.5694/j.1326-5377.1977.tb99135.x. Med J Aust. 1977. PMID: 909480 No abstract available.
Further evidence for allelic heterogeneity in Hartnup disorder.
Azmanov DN, Kowalczuk S, Rodgers H, Auray-Blais C, Giguère R, Rasko JE, Bröer S, Cavanaugh JA. Azmanov DN, et al. Hum Mutat. 2008 Oct;29(10):1217-21. doi: 10.1002/humu.20777. Hum Mutat. 2008. PMID: 18484095
Hartnup disorder is an autosomal recessive impairment of amino acid transport in kidney and intestine. Mutations in SLC6A19 have been shown to cosegregate with the disease in the predicted recessive manner; however, in two previous studies (Seow et al., Nat G …
Hartnup disorder is an autosomal recessive impairment of amino acid transport in kidney and intestine. Mutations in SLC6A19 have been …
Metabolic correlates of learning disability.
Nyhan WL, Wulfeck BB, Tallal P, Marsden DL. Nyhan WL, et al. Birth Defects Orig Artic Ser. 1989;25(6):153-69. Birth Defects Orig Artic Ser. 1989. PMID: 2605319
CH was markedly delayed in all areas of cognitive development, which is consistent with global retardation. The severity of her disease and its probable impact on brain development were undoubtedly related to her intellectual impairment. ...Because of the diverse interests …
CH was markedly delayed in all areas of cognitive development, which is consistent with global retardation. The severity of her disease …
Natural history of Hartnup disease.
Wilcken B, Yu JS, Brown DA. Wilcken B, et al. Arch Dis Child. 1977 Jan;52(1):38-40. doi: 10.1136/adc.52.1.38. Arch Dis Child. 1977. PMID: 836052 Free PMC article.
Hartnup disease was diagnosed in 12 children and 3 of their 15 sibs in the course of routine urine screening of 6-week-old infants in New South Wales. ...Hartnup disease has an incidence of approximately 1 in 33 000 in New South Wales....
Hartnup disease was diagnosed in 12 children and 3 of their 15 sibs in the course of routine urine screening of 6-week- …
Hartnup disease masked by kwashiorkor.
Orbak Z, Ertekin V, Selimoglu A, Yilmaz N, Tan H, Konak M. Orbak Z, et al. J Health Popul Nutr. 2010 Aug;28(4):413-5. doi: 10.3329/jhpn.v28i4.6049. J Health Popul Nutr. 2010. PMID: 20824986 Free PMC article.
This report describes an 11-month old girl with Hartnup disease presenting with kwashiorkor and acrodermatitis enteropathica-like skin lesions but free of other clinical findings. ...Since zinc level was in the normal range, investigation for a metabolic disorder wa …
This report describes an 11-month old girl with Hartnup disease presenting with kwashiorkor and acrodermatitis enteropathica-l …
13 results