Cantz M - Search Results

1

Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype.

Tiede S, Muschol N, Reutter G, Cantz M, Ullrich K, Braulke T. Tiede S, et al. Among authors: cantz m. Am J Med Genet A. 2005 Sep 1;137A(3):235-40. doi: 10.1002/ajmg.a.30868. Am J Med Genet A. 2005. PMID: 16094673

2

A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site.

Tiede S, Cantz M, Raas-Rothschild A, Muschol N, Bürger F, Ullrich K, Braulke T. Tiede S, et al. Among authors: cantz m. Hum Mutat. 2004 Dec;24(6):535. doi: 10.1002/humu.9293. Hum Mutat. 2004. PMID: 15532026

3

Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG.

Tiede S, Cantz M, Spranger J, Braulke T. Tiede S, et al. Among authors: cantz m. Hum Mutat. 2006 Aug;27(8):830-1. doi: 10.1002/humu.9443. Hum Mutat. 2006. PMID: 16835905

4

Compensatory expression of human N-acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gamma.

Pohl S, Tiede S, Castrichini M, Cantz M, Gieselmann V, Braulke T. Pohl S, et al. Among authors: cantz m. Biochim Biophys Acta. 2009 Mar;1792(3):221-5. doi: 10.1016/j.bbadis.2009.01.009. Biochim Biophys Acta. 2009. PMID: 19708128 Free article.

5

Mucolipidosis I--a sialidosis.

Sphranger J, Gehler J, Cantz M. Sphranger J, et al. Among authors: cantz m. Am J Med Genet. 1977;1(1):21-9. doi: 10.1002/ajmg.1320010104. Am J Med Genet. 1977. PMID: 610423

6

Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal alpha-N-acetyl-neuraminidase (sialidase) gene.

Sergi C, Penzel R, Uhl J, Zoubaa S, Dietrich H, Decker N, Rieger P, Kopitz J, Otto HF, Kiessling M, Cantz M. Sergi C, et al. Among authors: cantz m. Hum Genet. 2001 Oct;109(4):421-8. doi: 10.1007/s004390100592. Hum Genet. 2001. PMID: 11702224

7

Phosphorylation of lysosomal enzymes in fibroblasts. Marked deficiency of N-acetylglucosamine-1-phosphotransferase in fibroblasts of patients with mucolipidosis III.

Waheed A, Hasilik A, Cantz M, von Figura K. Waheed A, et al. Among authors: cantz m. Hoppe Seylers Z Physiol Chem. 1982 Feb;363(2):169-78. doi: 10.1515/bchm2.1982.363.1.169. Hoppe Seylers Z Physiol Chem. 1982. PMID: 6460679

8

Methylamine accumulation in cultured cells as a measure of the aqueous storage compartment in the laboratory diagnosis of genetic lysosomal diseases.

Kopitz J, Harzer K, Kohlschütter A, Zöller B, Blenck N, Cantz M. Kopitz J, et al. Among authors: cantz m. Am J Med Genet. 1996 May 3;63(1):198-202. doi: 10.1002/(SICI)1096-8628(19960503)63:1<198::AID-AJMG35>3.0.CO;2-H. Am J Med Genet. 1996. PMID: 8723110

9

Protein catabolism in fibroblasts cultured from patients with mucolipidosis II and other lysosomal disorders.

Kopitz J, Arnold A, Meissner T, Cantz M. Kopitz J, et al. Among authors: cantz m. Biochem J. 1993 Oct 15;295 ( Pt 2)(Pt 2):577-80. doi: 10.1042/bj2950577. Biochem J. 1993. PMID: 8240260 Free PMC article.

10

Towards quality assurance in the determination of lysosomal enzymes: a two-centre study.

Lukacs Z, Keil A, Peters V, Kohlschütter A, Hoffmann GF, Cantz M, Kopitz J. Lukacs Z, et al. Among authors: cantz m. J Inherit Metab Dis. 2003;26(6):571-81. doi: 10.1023/a:1025904132569. J Inherit Metab Dis. 2003. PMID: 14605503

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