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Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations.
Kuchar L, Ledvinová J, Hrebícek M, Mysková H, Dvoráková L, Berná L, Chrastina P, Asfaw B, Elleder M, Petermöller M, Mayrhofer H, Staudt M, Krägeloh-Mann I, Paton BC, Harzer K. Kuchar L, et al. Among authors: mayrhofer h. Am J Med Genet A. 2009 Feb 15;149A(4):613-21. doi: 10.1002/ajmg.a.32712. Am J Med Genet A. 2009. PMID: 19267410 Free PMC article.
Clinical findings in Niemann-Pick disease type B.
Müssig K, Harzer K, Mayrhofer H, Krägeloh-Mann I, Häring HU, Machicao F. Müssig K, et al. Among authors: mayrhofer h. Intern Med J. 2006 Feb;36(2):135-6. doi: 10.1111/j.1445-5994.2005.01013.x. Intern Med J. 2006. PMID: 16472269 No abstract available.
Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K.
Harzer K, Rolfs A, Bauer P, Zschiesche M, Mengel E, Backes J, Kustermann-Kuhn B, Bruchelt G, van Diggelen OP, Mayrhofer H, Krägeloh-Mann I. Harzer K, et al. Among authors: mayrhofer h. Neuropediatrics. 2003 Dec;34(6):301-6. doi: 10.1055/s-2003-44668. Neuropediatrics. 2003. PMID: 14681755
Microbial occurrence and symbiont detection in a global sample of lichen metagenomes.
Tagirdzhanova G, Saary P, Cameron ES, Allen CCG, Garber AI, Escandón DD, Cook AT, Goyette S, Nogerius VT, Passo A, Mayrhofer H, Holien H, Tønsberg T, Stein LY, Finn RD, Spribille T. Tagirdzhanova G, et al. Among authors: mayrhofer h. PLoS Biol. 2024 Nov 7;22(11):e3002862. doi: 10.1371/journal.pbio.3002862. eCollection 2024 Nov. PLoS Biol. 2024. PMID: 39509454 Free PMC article.
Large differences in carbohydrate degradation and transport potential among lichen fungal symbionts.
Resl P, Bujold AR, Tagirdzhanova G, Meidl P, Freire Rallo S, Kono M, Fernández-Brime S, Guðmundsson H, Andrésson ÓS, Muggia L, Mayrhofer H, McCutcheon JP, Wedin M, Werth S, Willis LM, Spribille T. Resl P, et al. Among authors: mayrhofer h. Nat Commun. 2022 May 12;13(1):2634. doi: 10.1038/s41467-022-30218-6. Nat Commun. 2022. PMID: 35551185 Free PMC article.
65 results