SLC3A1andSLC7A9Mutations in Autosomal Recessive or Dominant Canine Cystinuria: A New Classification System

Autor: Junlong Liu, Karthik Raj, A.C. Sewell, Paula S. Henthorn, A.-K. Brons, C.A. Fitzgerald, Urs Giger

Publikováno v: Journal of Veterinary Internal Medicine. 27:1400-1408

Cystinuria (OMIA 000256-9615) is one of the first inborn errors of metabolism recognized by Sir Archibald Garrod 1,2 and is an inherited selective renal transport defect 3,4 involving cystine and the dibasic amino acids ornithine, lysine and arginine

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dba5e10ac66db318592ac67d6967bf42
https://doi.org/10.1111/jvim.12176

Contents, Vol. 7, 1994

Autor: R. Roguet, S. Georgiou, Kenneth R. Feingold, Dionysios Tsambaos, A. Rougier, Peter M. Elias, A. Kalofoutis, Günter Goerz, Jürgen Bereiter-Hahn, B. Keller-Stanislawski, C.A. Baker, Hideo Uno, N. Rietbrock, Hans Holzmann, August Bernd, P.J. Dykes, F.F. Görmar, C. Theilig, Simon M. Jackson, Ana Ramirez-Bosca, Klaus Bolsen, F. Raffali, Man Mao-Qiang, Brigitte Bosman, Ronald Marks, G.A. Johnson, A.C. Sewell

Publikováno v: Skin Pharmacology and Physiology. 7:I-IV

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ab4c8fa243fefb975847ae1b7f51688e
https://doi.org/10.1159/000211310

Reactions of Human Keratinocytes in vitro after Application of Nicotine

Autor: A.C. Sewell, August Bernd, Hans Holzmann, B. Keller-Stanislawski, N. Rietbrock, Ana Ramirez-Bosca, Jürgen Bereiter-Hahn, F.F. Görmar, C. Theilig

Publikováno v: Skin Pharmacology and Physiology. 7:307-315

Nicotine is rapidly taken up by human keratinocytes (HaCaT cells) and after 3 h the uptake is approximately 50% of maximum. Cotinine, a metabolite of nicotine, was detected, thus demonstrating the metabolism of nicotine in HaCaT cells. Low nicotine c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::447191ec755871b8861bf28992dd625d
https://doi.org/10.1159/000211311

Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency

Autor: Piero Rinaldo, Jan A.M. Smeitink, C. Roe, Morten J. Corydon, William J. Rhead, Vibeke Winter, H.L. Levy, Margrethe Kjeldsen, A.C. Sewell, C. Riggs, Dusica Babovic-Vuksanovic, Dietrich Matern, M. Dasouki, J.J. de Jong, Niels Gregersen, Jerry Vockley

Publikováno v: Corydon, M J, Vockley, J, Rinaldo, P, Rhead, W J, Kjeldsen, M, Winter, V, Riggs, C, Babovic-Vuksanovic, D, Smeitink, J, De Jong, J, Levy, H, Clive, S A, Roe, C, Matern, D, Dasouki, M & Gregersen, N 2001, ' Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency ', Pediatr. Res., vol. 49, pp. 18-23 .
Scopus-Elsevier
Pediatric Research, 49, 1, pp. 18-23
Pediatric Research, 49, 18-23
BASE-Bielefeld Academic Search Engine

Item does not contain fulltext ABSTRACT Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is considered a rare inherited mitochondrial fatty acid oxidation disorder. Less than 10 patients have been reported, diagnosed on the basis of ethylmalonic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::097179214e4109f52c042c5a44524f8f
https://pure.au.dk/portal/da/publications/role-of-common-gene-variations-in-the-molecular-pathogenesis-of-shortchain-acylcoa-dehydrogenase-deficiency(a11db050-983f-11da-bee9-02004c4f4f50).html

Subject Index, Vol. 7,1994

Autor: R. Roguet, Jürgen Bereiter-Hahn, Kenneth R. Feingold, August Bernd, Brigitte Bosman, Hideo Uno, Dionysios Tsambaos, Peter M. Elias, Hans Holzmann, A.C. Sewell, A. Rougier, C.A. Baker, N. Rietbrock, Günter Goerz, Ronald Marks, G.A. Johnson, F.F. Görmar, C. Theilig, S. Georgiou, Simon M. Jackson, Klaus Bolsen, F. Raffali, Man Mao-Qiang, B. Keller-Stanislawski, Ana Ramirez-Bosca, A. Kalofoutis, P.J. Dykes

Publikováno v: Skin Pharmacology and Physiology. 7:371-372

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5bc1bd0fadf4aa80b60d40c2ebda91e2
https://doi.org/10.1159/000211321