Assmann B - Search Results

1

3-Ureidopropionate contributes to the neuropathology of 3-ureidopropionase deficiency and severe propionic aciduria: a hypothesis.

Kölker S, Okun JG, Hörster F, Assmann B, Ahlemeyer B, Kohlmüller D, Exner-Camps S, Mayatepek E, Krieglstein J, Hoffmann GF. Kölker S, et al. Among authors: assmann b. J Neurosci Res. 2001 Nov 15;66(4):666-73. doi: 10.1002/jnr.10012. J Neurosci Res. 2001. PMID: 11746386

2

Looking forward--an evidence-based approach to glutaryl-CoA dehydrogenase deficiency.

Kölker S, Burgard P, Okun JG, Schulze-Bergkamen A, Assmann B, Greenberg CR, Hoffmann GF. Kölker S, et al. Among authors: assmann b. J Inherit Metab Dis. 2004;27(6):921-6. doi: 10.1023/B:BOLI.0000045778.73581.7d. J Inherit Metab Dis. 2004. PMID: 15505401 Review.

3

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.

Boy N, Mühlhausen C, Maier EM, Heringer J, Assmann B, Burgard P, Dixon M, Fleissner S, Greenberg CR, Harting I, Hoffmann GF, Karall D, Koeller DM, Krawinkel MB, Okun JG, Opladen T, Posset R, Sahm K, Zschocke J, Kölker S; Additional individual contributors. Boy N, et al. Among authors: assmann b. J Inherit Metab Dis. 2017 Jan;40(1):75-101. doi: 10.1007/s10545-016-9999-9. Epub 2016 Nov 16. J Inherit Metab Dis. 2017. PMID: 27853989 Review.

4

Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency.

Assmann B, Göhlich G, Baethmann M, Wevers RA, Van Gennip AH, Van Kuilenburg AB, Dietrich C, Wagner L, Rotteveel JJ, Schaper J, Mayatepek E, Hoffmann GF, Voit T. Assmann B, et al. Neuropediatrics. 2006 Feb;37(1):20-5. doi: 10.1055/s-2006-923933. Neuropediatrics. 2006. PMID: 16541364

5

Synthesis and metabolism of leukotrienes in gamma-glutamyl transpeptidase deficiency.

Mayatepek E, Okun JG, Meissner T, Assmann B, Hammond J, Zschocke J, Lehmann WD. Mayatepek E, et al. Among authors: assmann b. J Lipid Res. 2004 May;45(5):900-4. doi: 10.1194/jlr.M300462-JLR200. Epub 2004 Feb 1. J Lipid Res. 2004. PMID: 14754911 Free article.

6

Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters.

Boy N, Haege G, Heringer J, Assmann B, Mühlhausen C, Ensenauer R, Maier EM, Lücke T, Hoffmann GF, Müller E, Burgard P, Kölker S. Boy N, et al. Among authors: assmann b. J Inherit Metab Dis. 2013 May;36(3):525-33. doi: 10.1007/s10545-012-9517-7. Epub 2012 Sep 13. J Inherit Metab Dis. 2013. PMID: 22971958 Clinical Trial.

7

A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations.

Assmann B, Hackler R, Peters V, Schaefer JR, Arndt T, Mayatepek E, Jaeken J, Hoffmann GF. Assmann B, et al. Neuropediatrics. 2001 Dec;32(6):313-8. doi: 10.1055/s-2001-20407. Neuropediatrics. 2001. PMID: 11870587

8

Approach to the diagnosis of neurotransmitter diseases exemplified by the differential diagnosis of childhood-onset dystonia.

Assmann B, Surtees R, Hoffmann GF. Assmann B, et al. Ann Neurol. 2003;54 Suppl 6:S18-24. doi: 10.1002/ana.10628. Ann Neurol. 2003. PMID: 12891650 Review.

9

beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities.

van Kuilenburg AB, Meinsma R, Beke E, Assmann B, Ribes A, Lorente I, Busch R, Mayatepek E, Abeling NG, van Cruchten A, Stroomer AE, van Lenthe H, Zoetekouw L, Kulik W, Hoffmann GF, Voit T, Wevers RA, Rutsch F, van Gennip AH. van Kuilenburg AB, et al. Among authors: assmann b. Hum Mol Genet. 2004 Nov 15;13(22):2793-801. doi: 10.1093/hmg/ddh303. Epub 2004 Sep 22. Hum Mol Genet. 2004. PMID: 15385443

10

Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.

Harting I, Neumaier-Probst E, Seitz A, Maier EM, Assmann B, Baric I, Troncoso M, Mühlhausen C, Zschocke J, Boy NP, Hoffmann GF, Garbade SF, Kölker S. Harting I, et al. Among authors: assmann b. Brain. 2009 Jul;132(Pt 7):1764-82. doi: 10.1093/brain/awp112. Epub 2009 May 11. Brain. 2009. PMID: 19433437

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

78 results

Search Page

Filters