Boy NP - Search Results

1

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: boy np. Brain. 2009 Jul;132(Pt 7):1764-82. doi: 10.1093/brain/awp112. Epub 2009 May 11. Brain. 2009. PMID: 19433437

2

Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany.

Kölker S, Garbade SF, Boy N, Maier EM, Meissner T, Mühlhausen C, Hennermann JB, Lücke T, Häberle J, Baumkötter J, Haller W, Muller E, Zschocke J, Burgard P, Hoffmann GF. Kölker S, et al. Pediatr Res. 2007 Sep;62(3):357-63. doi: 10.1203/PDR.0b013e318137a124. Pediatr Res. 2007. PMID: 17622945

3

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. 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.

4

Severe Acute Subdural Hemorrhage in a Patient With Glutaric Aciduria Type I After Minor Head Trauma: A Case Report.

Zielonka M, Braun K, Bengel A, Seitz A, Kölker S, Boy N. Zielonka M, et al. J Child Neurol. 2015 Jul;30(8):1065-9. doi: 10.1177/0883073814541479. Epub 2014 Jul 17. J Child Neurol. 2015. PMID: 25038128

5

(1)H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites.

Harting I, Boy N, Heringer J, Seitz A, Bendszus M, Pouwels PJ, Kölker S. Harting I, et al. J Inherit Metab Dis. 2015 Sep;38(5):829-38. doi: 10.1007/s10545-015-9826-8. Epub 2015 Apr 10. J Inherit Metab Dis. 2015. PMID: 25860816

6

A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I.

Boy N, Heringer J, Haege G, Glahn EM, Hoffmann GF, Garbade SF, Kölker S, Burgard P. Boy N, et al. Orphanet J Rare Dis. 2015 Dec 22;10:163. doi: 10.1186/s13023-015-0379-6. Orphanet J Rare Dis. 2015. PMID: 26693825 Free PMC article.

7

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. 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.

8

Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity.

Boy N, Heringer J, Brackmann R, Bodamer O, Seitz A, Kölker S, Harting I. Boy N, et al. Orphanet J Rare Dis. 2017 Apr 24;12(1):77. doi: 10.1186/s13023-017-0612-6. Orphanet J Rare Dis. 2017. PMID: 28438223 Free PMC article.

9

Organic acidurias in adults: late complications and management.

Tuncel AT, Boy N, Morath MA, Hörster F, Mütze U, Kölker S. Tuncel AT, et al. J Inherit Metab Dis. 2018 Sep;41(5):765-776. doi: 10.1007/s10545-017-0135-2. Epub 2018 Jan 15. J Inherit Metab Dis. 2018. PMID: 29335813 Review.

10

Newborn screening: A disease-changing intervention for glutaric aciduria type 1.

Boy N, Mengler K, Thimm E, Schiergens KA, Marquardt T, Weinhold N, Marquardt I, Das AM, Freisinger P, Grünert SC, Vossbeck J, Steinfeld R, Baumgartner MR, Beblo S, Dieckmann A, Näke A, Lindner M, Heringer J, Hoffmann GF, Mühlhausen C, Maier EM, Ensenauer R, Garbade SF, Kölker S. Boy N, et al. Ann Neurol. 2018 May;83(5):970-979. doi: 10.1002/ana.25233. Epub 2018 Apr 30. Ann Neurol. 2018. PMID: 29665094

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