Search

Your search keyword '"Grünert, S. C."' showing total 12 results
Start Over Author "Grünert, S. C."
12 results on '"Grünert, S. C."'

2. Metabolic Neuropathies in Children and Adolescents with LCHAD/MTP Deficiency: Insights from In Vivo Magnetic Resonance Neurography.

Author

Preisner, F., Kurz, F., Grünert, S. C., Jende, J., Schwarz, D., Haas, D., Neugebauer, J., Beblo, S., Weigel, C., Kölker, S., Heiland, S., Bendszus, M., and Mütze, U.

Subjects
MAGNETIC resonance neurography, TEENAGERS, PROTEIN deficiency, MITOCHONDRIAL proteins, PERIPHERAL neuropathy, AUDITORY neuropathy, GLUCOSE-6-phosphate dehydrogenase deficiency
Abstract

This article discusses the use of magnetic resonance neurography (MRN) in children and adolescents with metabolic neuropathies. The study focused on patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) and mitochondrial trifunctional protein deficiency (MTPD). The results showed that MRN was able to detect nerve lesions and functional nerve changes in these patients, indicating its potential as a valuable tool for detecting and monitoring peripheral neuropathy in this population. The findings suggest that MRN could be used as a non-invasive method for diagnosing and assessing neuropathies in children and adolescents. [Extracted from the article]

Published
2023
Full Text
View/download PDF

3. Mutation analysis in 54 propionic acidemia patients

Author

Kraus, J. P., Spector, E., Venezia, S., Estes, P., Chiang, P. W., Creadon-Swindell, G., Müllerleile, S., de Silva, L., Barth, M., Walter, M., Walter, K., Meissner, T., Lindner, M., Ensenauer, R., Santer, R., Bodamer, O. A., Baumgartner, M. R., Brunner-Krainz, M., Karall, D., Haase, C., Knerr, I., Marquardt, T., Hennermann, J. B., Steinfeld, R., Beblo, S., Koch, H. G., Konstantopoulou, V., Scholl-Bürgi, S., van Teeffelen-Heithoff, A., Suormala, T., Ugarte, M., Sperl, W., Superti-Furga, A., Schwab, K. O., Grünert, S. C., and Sass, J. O.

Published
2012
Full Text
View/download PDF

4. Propionic acidemia: neonatal versus selective metabolic screening

Author

Grünert, S. C., Müllerleile, S., de Silva, L., Barth, M., Walter, M., Walter, K., Meissner, T., Lindner, M., Ensenauer, R., Santer, R., Bodamer, O. A., Baumgartner, M. R., Brunner-Krainz, M., Karall, D., Haase, C., Knerr, I., Marquardt, T., Hennermann, J. B., Steinfeld, R., Beblo, S., Koch, H. G., Konstantopoulou, V., Scholl-Bürgi, S., van Teeffelen-Heithoff, A., Suormala, T., Sperl, W., Kraus, J. P., Superti-Furga, A., Schwab, K. O., and Sass, J. O.

Published
2012
Full Text
View/download PDF

7. A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency

Author

Morscher, R J, Grünert, S C, Bürer, C, Burda, P, Suormala, T, Fowler, B, Baumgartner, M R, University of Zurich, and Baumgartner, M R

Subjects
2712 Endocrinology, Diabetes and Metabolism, 1303 Biochemistry, 1311 Genetics, 10036 Medical Clinic, 10076 Center for Integrative Human Physiology, 1312 Molecular Biology, 570 Life sciences, biology, 610 Medicine & health, 1310 Endocrinology
Published
2012

8. Propionic acidemia: neonatal versus selective metabolic screening

Author

Grünert, S. C., primary, Müllerleile, S., additional, de Silva, L., additional, Barth, M., additional, Walter, M., additional, Walter, K., additional, Meissner, T., additional, Lindner, M., additional, Ensenauer, R., additional, Santer, R., additional, Bodamer, O. A., additional, Baumgartner, M. R., additional, Brunner‐Krainz, M., additional, Karall, D., additional, Haase, C., additional, Knerr, I., additional, Marquardt, T., additional, Hennermann, J. B., additional, Steinfeld, R., additional, Beblo, S., additional, Koch, H. G., additional, Konstantopoulou, V., additional, Scholl‐Bürgi, S., additional, van Teeffelen‐Heithoff, A., additional, Suormala, T., additional, Sperl, W., additional, Kraus, J. P., additional, Superti‐Furga, A., additional, Schwab, K. O., additional, and Sass, J. O., additional

Published
2011
Full Text
View/download PDF

9. Mutation analysis in 54 propionic acidemia patients

Author

Kraus, J. P., primary, Spector, E., additional, Venezia, S., additional, Estes, P., additional, Chiang, P. W., additional, Creadon-Swindell, G., additional, Müllerleile, S., additional, de Silva, L., additional, Barth, M., additional, Walter, M., additional, Walter, K., additional, Meissner, T., additional, Lindner, M., additional, Ensenauer, R., additional, Santer, R., additional, Bodamer, O. A., additional, Baumgartner, M. R., additional, Brunner-Krainz, M., additional, Karall, D., additional, Haase, C., additional, Knerr, I., additional, Marquardt, T., additional, Hennermann, J. B., additional, Steinfeld, R., additional, Beblo, S., additional, Koch, H. G., additional, Konstantopoulou, V., additional, Scholl-Bürgi, S., additional, van Teeffelen-Heithoff, A., additional, Suormala, T., additional, Ugarte, M., additional, Sperl, W., additional, Superti-Furga, A., additional, Schwab, K. O., additional, Grünert, S. C., additional, and Sass, J. O., additional

Published
2011
Full Text
View/download PDF

12. How strict is galactose restriction in adults with galactosaemia? International practice.

Author

Adam S, Akroyd R, Bernabei S, Bollhalder S, Boocock S, Burlina A, Coote T, Corthouts K, Dalmau J, Dawson S, Defourny S, De Meyer A, Desloovere A, Devlin Y, Diels M, Dokoupil K, Donald S, Evans S, Fasan I, Ferguson C, Ford S, Forga M, Gallo G, Grünert SC, Heddrich-Ellerbrok M, Heidenborg C, Jonkers C, Lefebure K, Luyten K, MacDonald A, Meyer U, Micciche A, Müller E, Portnoi P, Ripley S, Robert M, Robertson LV, Rosenbaum-Fabian S, Sahm K, Schultz S, Singleton K, Sjöqvist E, Stoelen L, Terry A, Thompson S, Timmer C, Vande Kerckhove K, van der Ploeg L, Van Driessche M, van Rijn M, van Teeffelen-Heithoff A, Vitoria I, Voillot C, Wenz J, Westbrook M, Wildgoose J, and Zweers H

Subjects
Adult, Food, Fruit, Humans, Lactose administration & dosage, Surveys and Questionnaires, Vegetables, Diet, Galactose administration & dosage, Galactosemias diet therapy
Abstract

Dietary management of 418 adult patients with galactosaemia (from 39 centres/12 countries) was compared. All centres advised lactose restriction, 6 restricted galactose from galactosides ± fruits and vegetables and 12 offal. 38% (n=15) relaxed diet by: 1) allowing traces of lactose in manufactured foods (n=13) or 2) giving fruits, vegetables and galactosides (n=2). Only 15% (n=6) calculated dietary galactose. 32% of patients were lost to dietetic follow-up. In adult galactosaemia, there is limited diet relaxation., (Copyright © 2015 Elsevier Inc. All rights reserved.)

Published
2015
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results