18607768,22237443,22676651[uid] - Search Results

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Year	Number of Results
2008	1
2012	2
2025	0

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Molecular diagnosis of German patients with late-onset glycogen storage disease type II.

Joshi PR, Gläser D, Schmidt S, Vorgerd M, Winterholler M, Eger K, Zierz S, Deschauer M. Joshi PR, et al. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S261-5. doi: 10.1007/s10545-008-0820-2. Epub 2008 Jul 10. J Inherit Metab Dis. 2008. PMID: 18607768

Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease.

Messinger YH, Mendelsohn NJ, Rhead W, Dimmock D, Hershkovitz E, Champion M, Jones SA, Olson R, White A, Wells C, Bali D, Case LE, Young SP, Rosenberg AS, Kishnani PS. Messinger YH, et al. Genet Med. 2012 Jan;14(1):135-42. doi: 10.1038/gim.2011.4. Genet Med. 2012. PMID: 22237443 Free PMC article.

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. 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.

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