Bodamer O - Search Results

1

An emerging role for endothelial barrier support therapy for congenital disorders of glycosylation.

Brucker WJ, Croteau SE, Prensner JR, Cullion K, Heeney MM, Lo J, McAlvin JB, Peeler K, Shah N, Yee CSK, Berry GT, Bodamer O. Brucker WJ, et al. Among authors: bodamer o. J Inherit Metab Dis. 2020 Jul;43(4):880-890. doi: 10.1002/jimd.12225. Epub 2020 Feb 27. J Inherit Metab Dis. 2020. PMID: 32064623

2

Congenital disorders of glycosylation--a challenging group of IEMs.

Vodopiutz J, Bodamer OA. Vodopiutz J, et al. Among authors: bodamer oa. J Inherit Metab Dis. 2008 Apr;31(2):267-9. doi: 10.1007/s10545-008-0849-2. Epub 2008 Apr 4. J Inherit Metab Dis. 2008. PMID: 18392739 Review.

3

Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates.

MacPherson MJ, Erickson SL, Kopp D, Wen P, Aghanoori MR, Kedia S, Burns KML, Vitobello A, Tran Mau-Them F, Thomas Q, Gold NB, Brucker W, Amlie-Wolf L, Gripp KW, Bodamer O, Faivre L, Muona M, Menzies L, Baptista J, Guegan K, Male A, Wei XC, He G, Long Q, Innes AM, Yang G. MacPherson MJ, et al. Among authors: bodamer o. Cell Rep. 2021 Jun 8;35(10):109226. doi: 10.1016/j.celrep.2021.109226. Cell Rep. 2021. PMID: 34107259 Free article.

4

Expanded newborn screening in Europe 2007.

Bodamer OA, Hoffmann GF, Lindner M. Bodamer OA, et al. J Inherit Metab Dis. 2007 Aug;30(4):439-44. doi: 10.1007/s10545-007-0666-z. Epub 2007 Jul 23. J Inherit Metab Dis. 2007. PMID: 17643197

5

Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres.

Zwickler T, Lindner M, Aydin HI, Baumgartner MR, Bodamer OA, Burlina AB, Das AM, DeKlerk JB, Gökcay G, Grünewald S, Guffon N, Maier EM, Morava E, Geb S, Schwahn B, Walter JH, Wendel U, Wijburg FA, Müller E, Kölker S, Hörster F. Zwickler T, et al. Among authors: bodamer oa. J Inherit Metab Dis. 2008 Jun;31(3):361-7. doi: 10.1007/s10545-008-0804-2. Epub 2008 May 27. J Inherit Metab Dis. 2008. PMID: 18563634

6

B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement.

Guillard M, Morava E, de Ruijter J, Roscioli T, Penzien J, van den Heuvel L, Willemsen MA, de Brouwer A, Bodamer OA, Wevers RA, Lefeber DJ. Guillard M, et al. J Pediatr. 2011 Dec;159(6):1041-3.e2. doi: 10.1016/j.jpeds.2011.08.007. Epub 2011 Sep 13. J Pediatr. 2011. PMID: 21920538 Free article.

7

Newborn Screening for Lysosomal Storage Disorders.

Peake RW, Bodamer OA. Peake RW, et al. J Pediatr Genet. 2017 Mar;6(1):51-60. doi: 10.1055/s-0036-1593843. Epub 2016 Dec 2. J Pediatr Genet. 2017. PMID: 28180027 Free PMC article. Review.

8

Biochemical and behavioral phenotype of AGAT and GAMT deficient mice following long-term Creatine monohydrate supplementation.

Iqbal F, Hoeger H, Lubec G, Bodamer O. Iqbal F, et al. Among authors: bodamer o. Metab Brain Dis. 2017 Dec;32(6):1951-1961. doi: 10.1007/s11011-017-0092-3. Epub 2017 Aug 14. Metab Brain Dis. 2017. PMID: 28808834

9

Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters.

Hörster F, Garbade SF, Zwickler T, Aydin HI, Bodamer OA, Burlina AB, Das AM, De Klerk JBC, Dionisi-Vici C, Geb S, Gökcay G, Guffon N, Maier EM, Morava E, Walter JH, Schwahn B, Wijburg FA, Lindner M, Grünewald S, Baumgartner MR, Kölker S. Hörster F, et al. Among authors: bodamer oa. J Inherit Metab Dis. 2009 Oct;32(5):630. doi: 10.1007/s10545-009-1189-6. Epub 2009 Jul 31. J Inherit Metab Dis. 2009. PMID: 19642010

10

Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation.

Chien YH, Bodamer OA, Chiang SC, Mascher H, Hung C, Hwu WL. Chien YH, et al. J Inherit Metab Dis. 2013 Sep;36(5):881-5. doi: 10.1007/s10545-012-9547-1. Epub 2012 Oct 30. J Inherit Metab Dis. 2013. PMID: 23109060

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