Harzer K - Search Results

1

The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement.

Hörtnagel K, Krägeloh-Mann I, Bornemann A, Döcker M, Biskup S, Mayrhofer H, Battke F, du Bois G, Harzer K. Hörtnagel K, et al. Among authors: harzer k. J Inherit Metab Dis. 2016 Nov;39(6):849-857. doi: 10.1007/s10545-016-9961-x. Epub 2016 Jul 29. J Inherit Metab Dis. 2016. PMID: 27473128 Free PMC article.

2

Late onset Krabbe disease due to the new GALC p.Ala543Pro mutation, with intriguingly high residual GALC activity in vitro.

Krägeloh-Mann I, Harzer K, Rostásy K, Beck-Wödl S, Bornemann A, Böhringer J, Bevot A, Beck V, Merkel G, Pechan M. Krägeloh-Mann I, et al. Among authors: harzer k. Eur J Paediatr Neurol. 2017 May;21(3):522-529. doi: 10.1016/j.ejpn.2016.12.012. Epub 2017 Jan 6. Eur J Paediatr Neurol. 2017. PMID: 28109651 Free article.

3

[Lysosomal storage diseases: A brief summary].

Bornemann A, Harzer K. Bornemann A, et al. Among authors: harzer k. Pathologe. 2015 Sep;36(5):485-93. doi: 10.1007/s00292-015-0053-8. Pathologe. 2015. PMID: 26314267 Review. German.

4

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: harzer k. 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.

5

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. Neuropediatrics. 2003 Dec;34(6):301-6. doi: 10.1055/s-2003-44668. Neuropediatrics. 2003. PMID: 14681755

6

Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease - a new type of neuronal ceroid lipofuscinosis (CLN15)?

Beck-Wödl S, Harzer K, Sturm M, Buchert R, Rieß O, Mennel HD, Latta E, Pagenstecher A, Keber U. Beck-Wödl S, et al. Among authors: harzer k. Acta Neuropathol Commun. 2018 Dec 27;6(1):145. doi: 10.1186/s40478-018-0646-6. Acta Neuropathol Commun. 2018. PMID: 30591081 Free PMC article.

7

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: harzer k. 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.

8

Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family.

Dubois G, Harzer K, Baumann N. Dubois G, et al. Among authors: harzer k. Am J Hum Genet. 1977 Mar;29(2):191-4. Am J Hum Genet. 1977. PMID: 15452 Free PMC article.

9

Bone marrow cytological storage phenomena in lipidoses.

Ziyeh S, Harzer K. Ziyeh S, et al. Among authors: harzer k. Eur J Pediatr. 1994 Apr;153(4):224-33. doi: 10.1007/BF01954507. Eur J Pediatr. 1994. PMID: 8194551 Review.

10

Sialidosis type I: first report in the Czech population of two siblings with cherry-red spot myoclonus syndrome but without sialyloligosacchariduria.

Ledvinová J, Poupĕtová H, Elleder M, Tichý J, Pĕnicková V, Harzer K. Ledvinová J, et al. Among authors: harzer k. J Inherit Metab Dis. 1994;17(1):118-9. doi: 10.1007/BF00735411. J Inherit Metab Dis. 1994. PMID: 8051919 No abstract available.

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