Works by Mayatepek, E.

Results: 72
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    Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop.

    Published in:
    Journal of Inherited Metabolic Disease, 2009, v. 32, n. 4, p. 498, doi. 10.1007/s10545-009-1126-8
    By:
    • Spiekerkoetter, U.;
    • Lindner, M.;
    • Santer, R.;
    • Grotzke, M.;
    • Baumgartner, M. R.;
    • Boehles, H.;
    • Das, A.;
    • Haase, C.;
    • Hennermann, J. B.;
    • Karall, D.;
    • de Klerk, H.;
    • Knerr, I.;
    • Koch, H. G.;
    • Plecko, B.;
    • Röschinger, W.;
    • Schwab, K. O.;
    • Scheible, D.;
    • Wijburg, F. A.;
    • Zschocke, J.;
    • Mayatepek, E.
    Publication type:
    Article
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    Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop.

    Published in:
    Journal of Inherited Metabolic Disease, 2009, v. 32, n. 4, p. 488, doi. 10.1007/s10545-009-1125-9
    By:
    • Spiekerkoetter, U.;
    • Lindner, M.;
    • Santer, R.;
    • Grotzke, M.;
    • Baumgartner, M. R.;
    • Boehles, H.;
    • Das, A.;
    • Haase, C.;
    • Hennermann, J. B.;
    • Karall, D.;
    • de Klerk, H.;
    • Knerr, I.;
    • Koch, H. G.;
    • Plecko, B.;
    • Röschinger, W.;
    • Schwab, K. O.;
    • Scheible, D.;
    • Wijburg, F. A.;
    • Zschocke, J.;
    • Mayatepek, E.
    Publication type:
    Article
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    Fatal genetic defect causing Wolman disease.

    Published in:
    Journal of Inherited Metabolic Disease, 1999, v. 22, n. 1, p. 93, doi. 10.1023/A:1005428122457
    By:
    • Mayatepek, E.;
    • Seedorf, U.;
    • Wiebusch, H.;
    • Lenhartz, H.;
    • Assmann, G.
    Publication type:
    Article
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    Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins.

    Published in:
    Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 447, doi. 10.1023/A:1005331523477
    By:
    • Jaeken, J.;
    • Artigas, J.;
    • Barone, R.;
    • Fiumara, A.;
    • de Koning, T.;
    • Poll-The, B.;
    • de Rijk-van Andel, J.;
    • Hoffmann, G.;
    • Assmann, B.;
    • Mayatepek, E.;
    • Pineda, M.;
    • Vilaseca, M.;
    • Saudubray, J.;
    • Schlüter, B.;
    • Wevers, R.;
    • Van Schaftingen, E.
    Publication type:
    Article
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    Genetic Analysis of the First 4 Patients with β-Ureidopropionase Deficiency.

    Published in:
    Nucleosides, Nucleotides & Nucleic Acids, 2006, v. 25, n. 9-11, p. 1093, doi. 10.1080/15257770600956870
    By:
    • van Kuilenburg, A.B. P.;
    • Meinsma, R.;
    • Assman, B.;
    • Hoffman, G.F.;
    • Voit, T.;
    • Ribes, A.;
    • Lorente, I.;
    • Busch, R.;
    • Mayatepek, E.;
    • Abeling, N.G. G. M.;
    • Wevers, R.A.;
    • Rutsch, F.;
    • van Gennip, A.H.
    Publication type:
    Article
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    Clinical and biochemical effects of zileuton in patients with the Sjögren-Larsson syndrome.

    Published in:
    2001
    By:
    • Willemsen, Michèl P.;
    • Lutt, Monique J.;
    • Steijlen, Peter M.;
    • Cruysberg, Johannes M.;
    • van der Graaf, Marinette;
    • Nijhuis-van der Sanden, Maria G.;
    • Pasman, Jaco W.;
    • Mayatepek, Ertan;
    • Rotteveel, Jan J.;
    • Willemsen, M A;
    • Lutt, M A;
    • Steijlen, P M;
    • Cruysberg, J R;
    • van der Graaf, M;
    • Nijhuis-van der Sanden, M W;
    • Pasman, J W;
    • Mayatepek, E;
    • Rotteveel, J J
    Publication type:
    journal article
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