Beck M - Search Results

1

Quantitative longitudinal natural history of 8 gangliosidoses-conceptual framework and baseline data of the German 8-in-1 disease registry. A cross-sectional analysis.

Ries M, Mendoza G, Arash-Kaps L, Amraoui Y, Quack F, Hardt B, Diederich S, Beck M, Mengel E. Ries M, et al. Among authors: beck m. Genet Med. 2022 Dec;24(12):2434-2443. doi: 10.1016/j.gim.2022.09.001. Epub 2022 Oct 4. Genet Med. 2022. PMID: 36194207 Free article.

2

A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease.

Whybra C, Miebach E, Mengel E, Gal A, Baron K, Beck M, Kampmann C. Whybra C, et al. Among authors: beck m. Genet Med. 2009 Jun;11(6):441-9. doi: 10.1097/GIM.0b013e3181a23bec. Genet Med. 2009. PMID: 19346951 Free article. Clinical Trial.

3

Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C.

Ries M, Schaefer E, Lührs T, Mani L, Kuhn J, Vanier MT, Krummenauer F, Gal A, Beck M, Mengel E. Ries M, et al. Among authors: beck m. J Inherit Metab Dis. 2006 Oct;29(5):647-52. doi: 10.1007/s10545-006-0363-3. Epub 2006 Jul 27. J Inherit Metab Dis. 2006. PMID: 16972172

4

A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.

Herzog A, Hartung R, Reuser AJ, Hermanns P, Runz H, Karabul N, Gökce S, Pohlenz J, Kampmann C, Lampe C, Beck M, Mengel E. Herzog A, et al. Among authors: beck m. Orphanet J Rare Dis. 2012 Jun 7;7:35. doi: 10.1186/1750-1172-7-35. Orphanet J Rare Dis. 2012. PMID: 22676651 Free PMC article.

5

Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa.

Schiffmann R, Ries M, Blankenship D, Nicholls K, Mehta A, Clarke JT, Steiner RD, Beck M, Barshop BA, Rhead W, West M, Martin R, Amato D, Nair N, Huertas P. Schiffmann R, et al. Among authors: beck m. Genet Med. 2013 Dec;15(12):983-9. doi: 10.1038/gim.2013.56. Epub 2013 May 16. Genet Med. 2013. PMID: 23680766 Free article. Clinical Trial.

6

Cardiac manifestations of Anderson-Fabry disease in heterozygous females.

Kampmann C, Baehner F, Whybra C, Martin C, Wiethoff CM, Ries M, Gal A, Beck M. Kampmann C, et al. Among authors: beck m. J Am Coll Cardiol. 2002 Nov 6;40(9):1668-74. doi: 10.1016/s0735-1097(02)02380-x. J Am Coll Cardiol. 2002. PMID: 12427421 Free article.

7

Cardiac manifestations of Anderson-Fabry disease in children and adolescents.

Kampmann C, Wiethoff CM, Whybra C, Baehner FA, Mengel E, Beck M. Kampmann C, et al. Among authors: beck m. Acta Paediatr. 2008 Apr;97(4):463-9. doi: 10.1111/j.1651-2227.2008.00700.x. Acta Paediatr. 2008. PMID: 18363956

8

Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature.

Whybra C, Mengel E, Russo A, Bahlmann F, Kampmann C, Beck M, Eich E, Mildenberger E. Whybra C, et al. Among authors: beck m. Orphanet J Rare Dis. 2012 Nov 8;7:86. doi: 10.1186/1750-1172-7-86. Orphanet J Rare Dis. 2012. PMID: 23137060 Free PMC article. Review.

9

The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents.

Ries M, Ramaswami U, Parini R, Lindblad B, Whybra C, Willers I, Gal A, Beck M. Ries M, et al. Among authors: beck m. Eur J Pediatr. 2003 Nov;162(11):767-72. doi: 10.1007/s00431-003-1299-3. Epub 2003 Sep 20. Eur J Pediatr. 2003. PMID: 14505049

10

Cardiac involvement in Anderson-Fabry disease.

Kampmann C, Baehner F, Ries M, Beck M. Kampmann C, et al. Among authors: beck m. J Am Soc Nephrol. 2002 Jun;13 Suppl 2:S147-9. J Am Soc Nephrol. 2002. PMID: 12068028 Review. No abstract available.

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