Cantz M - Search Results

1

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

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 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

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

[A new form of mucolipidosis].

Gehler J, Cantz M, Spranger J. Gehler J, et al. Among authors: cantz m. Monatsschr Kinderheilkd (1902). 1976 May;124(5):422-3. Monatsschr Kinderheilkd (1902). 1976. PMID: 132606 German. No abstract available.

6

Mucolipidosis I, the cherry red-spot--myoclonus syndrome and neuraminidase deficiency.

Spranger J, Cantz M. Spranger J, et al. Among authors: cantz m. Birth Defects Orig Artic Ser. 1978;14(6B):105-12. Birth Defects Orig Artic Ser. 1978. PMID: 728556 No abstract available.

7

Prenatal diagnosis of mucolipidosis II (I-cell disease).

Gehler J, Cantz M, Stoeckenius M, Spranger J. Gehler J, et al. Among authors: cantz m. Eur J Pediatr. 1976 Jun 8;122(3):201-6. doi: 10.1007/BF00463738. Eur J Pediatr. 1976. PMID: 819273

8

Mucolipidosis I: increased sialic acid content and deficiency of an alpha-N-acetylneuraminidase in cultured fibroblasts.

Cantz M, Gehler J, Spranger J. Cantz M, et al. Biochem Biophys Res Commun. 1977 Jan 24;74(2):732-8. doi: 10.1016/0006-291x(77)90363-1. Biochem Biophys Res Commun. 1977. PMID: 836321 No abstract available.

9

N-Acetylneuraminic acid storage disease.

Baumkötter J, Cantz M, Mendla K, Baumann W, Friebolin H, Gehler J, Spranger J. Baumkötter J, et al. Among authors: cantz m. Hum Genet. 1985;71(2):155-9. doi: 10.1007/BF00283373. Hum Genet. 1985. PMID: 4043964

10

The radiographic features of mannosidosis.

Spranger J, Gehler J, Cantz M. Spranger J, et al. Among authors: cantz m. Radiology. 1976 May;119(2):401-7. doi: 10.1148/119.2.401. Radiology. 1976. PMID: 1265271

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