Works matching AU Spiekerkoetter, U.

Results: 14

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

Diagnosis of glutathione synthetase deficiency in newborn screening.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 269, doi. 10.1007/s10545-009-1213-x

By:

Simon, E.;
Vogel, M.;
Fingerhut, R.;
Ristoff, E.;
Mayatepek, E.;
Spiekerkötter, U.

Publication type:

Article

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

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

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

The early-onset phenotype of mitochondrial trifunctional protein deficiency: A lethal disorder with multiple tissue involvement.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 2, p. 294, doi. 10.1023/B:BOLI.0000028839.57386.88

By:

Spiekerkoetter, U.;
Khuchua, Z.;
Yue, Z.;
Strauss, A.

Publication type:

Article

Silent and symptomatic primary carnitine deficiency within the same family due toidentical mutations in the organic cation/carnitine transporter OCTN2.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 613, doi. 10.1023/A:1025968502527

By:

Spiekerkoetter, U.;
Huener, G.;
Baykal, T.;
Demirkol, M.;
Duran, M.;
Wanders, R.;
Nezu, J.;
Mayatepek, E.

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

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

Single dose NTBC-treatment of hereditary tyrosinemia type I.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 831, doi. 10.1007/s10545-012-9450-9

By:

Schlune, A.;
Thimm, E.;
Herebian, D.;
Spiekerkoetter, U.

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

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

Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening.

Published in:

2015

By:

Grünert, Sarah C.;
Wehrle, A.;
Villavicencio-Lorini, P.;
Lausch, E.;
Vetter, B.;
Schwab, K. O.;
Tucci, S.;
Spiekerkoetter, U.

Publication type:

Case Study

Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening

Published in:

BMC Medical Genetics, 2015, v. 16, n. 1, p. 56, doi. 10.1186/s12881-015-0199-5

By:

Grünert, Sarah C.;
Wehrle, A.;
Villavicencio-Lorini, P.;
Lausch, E.;
Vetter, B.;
Schwab, K. O.;
Tucci, S.;
Spiekerkoetter, U.

Publication type:

Article