Works matching AU Wendel, U.

Results: 40

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

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

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

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

Whole Body Branched-Chain L-Amino Acid Oxidation in Overnight Fasted Human Subjects.

Published in:

Isotopes in Environmental & Health Studies, 1998, v. 34, n. 1/2, p. 189, doi. 10.1080/10256019808036370

By:

Bodner, A.;
Hammen, H.-W.;
Renn, W.;
Wendel, U.;
Schadewaldt, P.

Publication type:

Article

Compartmental Approach for Evaluation of Plasma Kinetics and Co 2 -Exhalation after Oral Loading with L-[1- C]Leucine.

Published in:

Isotopes in Environmental & Health Studies, 1996, v. 32, n. 2/3, p. 237, doi. 10.1080/10256019608036316

By:

Bodner, A.;
Renn, W.;
Wendel, U.;
Schadewaldt, P.

Publication type:

Article

Determination of C Enrichment by Conventional GC-MS and GC-(MS)-C-IRMS.

Published in:

Isotopes in Environmental & Health Studies, 1995, v. 31, n. 3/4, p. 261, doi. 10.1080/10256019508036268

By:

Meier-augenstein, W.;
Rating, D.;
Hoffmann, G. F.;
Wendel, U.;
Matthiesen, U.;
Schadewaldt, P.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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