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Modelling the phenylalanine blood level response during treatment of phenylketonuria.
Published in:
Journal of Inherited Metabolic Disease, 2001, v. 24, n. 8, p. 805, doi. 10.1023/A:1013946006155
By:
- Langenbeck, U.;
- Zschocke, J.;
- Wendel, U.;
- Hönig, V.
Publication type:
Article
Branched-chain L-amino acid metabolism in classical maple syrup urine disease after orthotopic liver transplantation.
Published in:
Journal of Inherited Metabolic Disease, 2000, v. 23, n. 8, p. 805, doi. 10.1023/A:1026708618507
By:
- Bodner-Leidecker, A.;
- Wendel, U.;
- Saudubray, J-M.;
- Schadewaldt, P.
Publication type:
Article
Renal clearance of branched-chain L-amino and 2-oxo acids in maple syrup urine disease.
Published in:
Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 706, doi. 10.1023/A:1005540016376
By:
- Schadewaldt, P.;
- Hammen>, H.-W.;
- Ott, A.-C.;
- Wendel, U.
Publication type:
Article
Novel mutations in patients with fructose-1,6-bisphosphatase deficiency.
Published in:
Journal of Inherited Metabolic Disease, 1999, v. 22, n. 2, p. 132, doi. 10.1023/A:1005489617843
By:
- Herzog, B.;
- Wendel, U.;
- Morris, A.;
- Eschrich, K.
Publication type:
Article
Carnitine–acylcarnitine carrier deficiency: Identification of the molecular defect in a patient.
Published in:
Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 262, doi. 10.1023/A:1005324323401
By:
- Huizing, M.;
- Wendel, U.;
- Ruitenbeek, W.;
- Iacobazzi, V.;
- Ijlst, L.;
- Veenhuizen, P.;
- Savelkoul, P.;
- van den Heuvel, L.;
- Smeitink, J.;
- Wanders, R.;
- Trijbels, J.;
- Palmieri, F.
Publication type:
Article
Pregnancy in a woman with maple syrup urine disease.
Published in:
Journal of Inherited Metabolic Disease, 1998, v. 21, n. 2, p. 89, doi. 10.1023/A:1005396823030
By:
- Grÿnewald, S.;
- Hinrichs, F.;
- Wendel, U.
Publication type:
Article
Cerebral metabolic changes in biotinidase deficiency.
Published in:
Journal of Inherited Metabolic Disease, 1997, v. 20, n. 6, p. 755, doi. 10.1023/A:1005307415289
By:
- Schürmann, M.;
- Engelbrecht, V.;
- Lohmeier, K.;
- Lenard, H.;
- Wendel, U.;
- Gärtner, J.
Publication type:
Article
Neonatal lethal mitochondrial trifunctional protein deficiency mimicking a respiratory chain defect.
Published in:
Journal of Inherited Metabolic Disease, 1997, v. 20, n. 6, p. 835, doi. 10.1023/A:1005340322558
By:
- Grünewald, S.;
- Bakkeren, J.;
- Wanders, R.;
- Wendel, U.
Publication type:
Article
Odd-numbered long-chain fatty acids in propionic acidaemia.
Published in:
European Journal of Pediatrics, 2000, v. 159, n. 1/2, p. 54, doi. 10.1007/s004310050010
By:
- Sperl, W.;
- Murr, C.;
- Skladal, D.;
- Sass, J. O.;
- Suormala, T.;
- Baumgartner, R.;
- Wendel, U.
Publication type:
Article
Liver transplantation in maple syrup urine disease.
Published in:
European Journal of Pediatrics, 1999, v. 158, n. 14, p. S060, doi. 10.1007/PL00014324
By:
- Wendel, U.;
- Saudubray, J. M.;
- Bodner, A.;
- Schadewaldt, P.
Publication type:
Article
Liver transplantation in maple syrup urine disease.
Published in:
1999
By:
- Wendel, U;
- Saudubray, J M;
- Bodner, A;
- Schadewaldt, P
Publication type:
journal article
Metabolism of branched-chain amino acids in maple syrup urine disease.
Published in:
European Journal of Pediatrics, 1997, v. 156, p. S62, doi. 10.1007/PL00014274
By:
- Schadewaldt, P.;
- Wendel, U.
Publication type:
Article
Treatment of hypercholesterolemia in children and adolescents.
Published in:
1992
By:
- Koletzko, Berthold;
- Kupke, Ingeborg;
- Wendel, Udo;
- Koletzko, B;
- Kupke, I;
- Wendel, U
Publication type:
journal article
Immunoglobulin Isotype Profile of Tissue Transglutaminase Autoantibodies is Correlated with the Clinical Presentation of Coeliac Disease.
Published in:
Scandinavian Journal of Immunology, 2005, v. 61, n. 2, p. 207, doi. 10.1111/j.0300-9475.2005.01549.x
By:
- Schilling, J.;
- Spiekerkoetter, U.;
- Wohlrab, U.;
- Wendel, U.;
- Seissler, J.
Publication type:
Article
Maple syrup urine disease: α-Ketoisocaproate decarboxylation activity in different types of cultured amniotic fluid cells.
Published in:
Prenatal Diagnosis, 1981, v. 1, n. 4, p. 235, doi. 10.1002/pd.1970010402
By:
- Wendel, U.;
- Gamm, G.;
- Claussen, U.
Publication type:
Article
Proton MR spectroscopy of the lumbar spine in patients with glycogen storage disease type Ib.
Published in:
2001
By:
- Scherer, Axel;
- Wittsack, Hans-Jörg;
- Engelbrecht, Volkher;
- Schwarz, Stefan;
- May, Philip;
- Poll, Ludger Wilhelm;
- Koch, Jens Albrecht;
- Wendel, Udo;
- Mödder, Ulrich;
- Scherer, A;
- Wittsack, H J;
- Engelbrecht, V;
- Schwarz, S;
- May, P;
- Poll, L W;
- Koch, J A;
- Wendel, U;
- Mödder, U
Publication type:
journal article
Cardiomyopathy and Pericardial Effusion in Infancy Point to a Fatty Acid b-Oxidation Defect After Exclusion of an Underlying Infection.
Published in:
Pediatric Cardiology, 2003, v. 24, n. 3, p. 295, doi. 10.1007/s00246-002-0277-2
By:
- Spiekerkoetter, U.;
- Tenenbaum, T.;
- Heusch, A.;
- Wendel, U.
Publication type:
Article
A Partial Form of Pseudohypoaldosteronism Type I Without Renal Sodium Wasting.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 1994, v. 7, n. 1, p. 57, doi. 10.1515/jpem.1994.7.1.57
By:
- Ballauff, A.;
- Wendel, U.;
- Kupke, I.;
- Kuhnle, U.
Publication type:
Article
Structural white matter changes in adolescents and young adults with maple syrup urine disease.
Published in:
Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 945, doi. 10.1007/s10545-012-9582-y
By:
- Klee, D.;
- Thimm, E.;
- Wittsack, H.;
- Schubert, D.;
- Primke, R.;
- Pentang, G.;
- Schaper, J.;
- Mödder, U.;
- Antoch, A.;
- Wendel, U.;
- Cohnen, M.
Publication type:
Article
Metabolic phenotypes of phenylketonuria. Kinetic and molecular evaluation of the Blaskovics protein loading test.
Published in:
Journal of Inherited Metabolic Disease, 2009, v. 32, n. 4, p. 506, doi. 10.1007/s10545-009-1152-6
By:
- Langenbeck, U.;
- Burgard, P.;
- Wendel, U.;
- Lindner, M.;
- Zschocke, J.
Publication type:
Article
Severe neurological crisis in a patient with hereditary tyrosinaemia type I after interruption of NTBC treatment.
Published in:
Journal of Inherited Metabolic Disease, 2008, v. 31, p. 223, doi. 10.1007/s10545-008-0807-z
By:
- Schlump, J.-U.;
- Perot, C.;
- Ketteler, K.;
- Schiff, M.;
- Mayatepek, E.;
- Wendel, U.;
- Spiekerkoetter, U.
Publication type:
Article
Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres.
Published in:
Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 361, doi. 10.1007/s10545-008-0804-2
By:
- Zwickler, T.;
- Lindner, M.;
- Aydin, H.;
- Baumgartner, M.;
- Bodamer, O.;
- Burlina, A.;
- Das, A.;
- deKlerk, J.;
- Gökcay, G.;
- Grünewald, S.;
- Guffon, N.;
- Maier, E.;
- Morava, E.;
- Geb, S.;
- Schwahn, B.;
- Walter, J.;
- Wendel, U.;
- Wijburg, F.;
- Müller, E.;
- Kölker, S.
Publication type:
Article
Description of the mutations in 15 subjects with variant forms of maple syrup urine disease.
Published in:
Journal of Inherited Metabolic Disease, 2007, v. 30, n. 6, p. 903, doi. 10.1007/s10545-007-0579-x
By:
- Flaschker, N.;
- Feyen, O.;
- Fend, S.;
- Simon, E.;
- Schadewaldt, P.;
- Wendel, U.
Publication type:
Article
Dietary long-chain polyunsaturated fatty acid supplementation in infants with phenylketonuria: a randomized controlled trial.
Published in:
Journal of Inherited Metabolic Disease, 2007, v. 30, n. 3, p. 326, doi. 10.1007/s10545-007-0491-4
By:
- Koletzko, B.;
- Sauerwald, T.;
- Demmelmair, H.;
- Herzog, M.;
- Schenck, U.;
- Böhles, H.;
- Wendel, U.;
- Seidel, J.
Publication type:
Article
Variant maple syrup urine disease (MSUD)—The entire spectrum.
Published in:
Journal of Inherited Metabolic Disease, 2006, v. 29, n. 6, p. 716, doi. 10.1007/s10545-006-0276-1
By:
- Simon, E.;
- Flaschker, N.;
- Schadewaldt, P.;
- Langenbeck, U.;
- Wendel, U.
Publication type:
Article
Renal excretion of galactose and galactitol in patients with classical galactosaemia, obligate heterozygous parents and healthy subjects.
Published in:
Journal of Inherited Metabolic Disease, 2003, v. 26, n. 5, p. 459, doi. 10.1023/A:1025173311030
By:
- Schadewaldt, P.;
- Killius, S.;
- Kamalanathan, L.;
- Hammen, H.-W.;
- Straßburger, K.;
- Wendel, U.
Publication type:
Article
Maple syrup urine disease: Mutation analysis in Turkish patients.
Published in:
Journal of Inherited Metabolic Disease, 2002, v. 25, n. 2, p. 89, doi. 10.1023/A:1015668425004
By:
- Dursun, A.;
- Henneke, M.;
- Özgül, K.;
- Gartner, J.;
- Coşkun, T.;
- Tokatli, A.;
- Kalkanoğlu, H.;
- Demirkol, M.;
- Wendel, U.;
- Özalp, İ.
Publication type:
Article
Changes in blood carnitine and acylcarnitine profiles of very long-chain acyl-CoA dehydrogenase-deficient mice subjected to stress.
Published in:
European Journal of Clinical Investigation, 2004, v. 34, n. 3, p. 191, doi. 10.1111/j.1365-2362.2004.01308.x
By:
- Spiekerkoetter, U.;
- Tokunaga, C.;
- Wendel, U.;
- Mayatepek, E.;
- Exil, V.;
- Duran, M.;
- Wijburg, F. A.;
- Wanders, R. J. A.;
- Strauss, A. W.
Publication type:
Article
Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU).
Published in:
2008
By:
- Simon E;
- Schwarz M;
- Roos J;
- Dragano N;
- Geraedts M;
- Siegrist J;
- Kamp G;
- Wendel U;
- Simon, Eva;
- Schwarz, Martin;
- Roos, Judith;
- Dragano, Nico;
- Geraedts, Max;
- Siegrist, Johannes;
- Kamp, Gudrun;
- Wendel, Udo
Publication type:
journal article
Kinins - Evidence for the Involvement in Lymphostatic Encephalopathy in Rats.
Published in:
Pharmacology, 1972, v. 7, n. 1, p. 17, doi. 10.1159/000136269
By:
- Wendel, U.;
- Seidel, G.
Publication type:
Article
Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: monitoring of treatment by carnitine/acylcarnitine analysis in blood spots.
Published in:
2000
By:
- Spiekerkötter, U;
- Schwahn, B;
- Korall, H;
- Trefz, FK;
- Andresen, BS;
- Wendel, U;
- Spiekerkötter, U;
- Trefz, F K;
- Andresen, B S
Publication type:
journal article
Very‐long‐chain acyl‐coenzyme A dehydrogenase (VLCAD) deficiency: monitoring of treatment by carnitine/acylcarnitine analysis in blood spots.
Published in:
Acta Paediatrica, 2000, v. 89, n. 4, p. 492, doi. 10.1111/j.1651-2227.2000.tb00088.x
By:
- Spiekerkötter, U;
- Schwahn, B;
- Korall, H;
- Trefz, FK;
- Andresen, BS;
- Wendel, U
Publication type:
Article
Diurnal changes in plasma amino acids in maple syrup urine disease.
Published in:
1998
By:
- Schwahn, B;
- Wendel, U;
- Schadewaldt, P;
- Falkenberg, N;
- Mönch, E;
- Mönch, E
Publication type:
journal article
Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis.
Published in:
Annals of Neurology, 2000, v. 47, n. 6, p. 776, doi. 10.1002/1531-8249(200006)47:6<776::AID-ANA10>3.0.CO;2-5
By:
- Grünewald, S.;
- Imbach, T.;
- Huijben, K.;
- Rubio-Gozalbo, M. E.;
- Verrips, A.;
- De Klerk, J. B. C.;
- Stroink, H.;
- De Rijk-Van Andel, J. F.;
- Van Hove, J. L. K.;
- Wendel, U.;
- Matthijs, G.;
- Hennet, T.;
- Jaeken, J.;
- Wevers, R. A.
Publication type:
Article
Maple syrup urine disease: Metabolic decompensation monitored by proton magnetic resonance imaging and spectroscopy.
Published in:
Annals of Neurology, 1993, v. 33, n. 4, p. 396, doi. 10.1002/ana.410330412
By:
- Felber, S. R.;
- Sperl, W.;
- Chemelli, A.;
- Murr, Ch.;
- Wendel, U.
Publication type:
Article
Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.
Published in:
Human Mutation, 2000, v. 16, n. 2, p. 177, doi. 10.1002/1098-1004(200008)16:2<177::AID-HUMU13>3.0.CO;2-8
By:
- Santer, R.;
- Rischewski, J.;
- Block, G.;
- Kinner, M.;
- Wendel, U.;
- Schaub, J.;
- Schneppenheim, R.
Publication type:
Article
Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations.
Published in:
Human Mutation, 2000, v. 15, n. 6, p. 522, doi. 10.1002/1098-1004(200006)15:6<522::AID-HUMU4>3.0.CO;2-Y
By:
- Rubio-Gozalbo, M.E.;
- Dijkman, K.P.;
- van den Heuvel, L.P.;
- Sengers, R.C.A.;
- Wendel, U.;
- Smeitink, J.A.M.
Publication type:
Article

Found: 37