Galjaard H - Search Results

1

Cathepsin A deficiency in galactosialidosis: studies of patients and carriers in 16 families.

Kleijer WJ, Geilen GC, Janse HC, van Diggelen OP, Zhou XY, Galjart NJ, Galjaard H, d'Azzo A. Kleijer WJ, et al. Among authors: galjaard h. Pediatr Res. 1996 Jun;39(6):1067-71. doi: 10.1203/00006450-199606000-00022. Pediatr Res. 1996. PMID: 8725271

2

A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable.

Zhou XY, Galjart NJ, Willemsen R, Gillemans N, Galjaard H, d'Azzo A. Zhou XY, et al. Among authors: galjaard h. EMBO J. 1991 Dec;10(13):4041-8. doi: 10.1002/j.1460-2075.1991.tb04980.x. EMBO J. 1991. PMID: 1756715 Free PMC article.

3

A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IV A).

van Diggelen OP, Zhao H, Kleijer WJ, Janse HC, Poorthuis BJ, van Pelt J, Kamerling JP, Galjaard H. van Diggelen OP, et al. Among authors: galjaard h. Clin Chim Acta. 1990 Feb 28;187(2):131-9. doi: 10.1016/0009-8981(90)90339-t. Clin Chim Acta. 1990. PMID: 2107987

4

Identification and in vitro reconstitution of lysosomal neuraminidase from human placenta.

van der Horst GT, Galjart NJ, d'Azzo A, Galjaard H, Verheijen FW. van der Horst GT, et al. Among authors: galjaard h. J Biol Chem. 1989 Jan 15;264(2):1317-22. J Biol Chem. 1989. PMID: 2492018 Free article.

5

Molecular heterogeneity in human beta-galactosidase and neuraminidase deficiency.

Galjaard H, Willemsen R, Hoogeveen AT, Mancini GM, Palmeri S, Verheijen FW, D'Azzo A. Galjaard H, et al. Enzyme. 1987;38(1-4):132-43. doi: 10.1159/000469199. Enzyme. 1987. PMID: 3126043 Review.

6

Expression of cDNA encoding the human "protective protein" associated with lysosomal beta-galactosidase and neuraminidase: homology to yeast proteases.

Galjart NJ, Gillemans N, Harris A, van der Horst GT, Verheijen FW, Galjaard H, d'Azzo A. Galjart NJ, et al. Among authors: galjaard h. Cell. 1988 Sep 9;54(6):755-64. doi: 10.1016/s0092-8674(88)90999-3. Cell. 1988. PMID: 3136930

7

alpha-N-acetylgalactosaminidase deficiency, a new lysosomal storage disorder.

van Diggelen OP, Schindler D, Willemsen R, Boer M, Kleijer WJ, Huijmans JG, Blom W, Galjaard H. van Diggelen OP, et al. Among authors: galjaard h. J Inherit Metab Dis. 1988;11(4):349-57. doi: 10.1007/BF01800424. J Inherit Metab Dis. 1988. PMID: 3149698

8

Impact of first-trimester chromosome, DNA, and metabolic studies on pregnancies at high genetic risk: experience with 1,000 cases.

Sachs ES, Jahoda MG, Kleijer WJ, Pijpers L, Galjaard H. Sachs ES, et al. Among authors: galjaard h. Am J Med Genet. 1988 Feb;29(2):293-303. doi: 10.1002/ajmg.1320290208. Am J Med Genet. 1988. PMID: 3354601

9

Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1-gangliosidosis.

Morrone A, Morreau H, Zhou XY, Zammarchi E, Kleijer WJ, Galjaard H, d'Azzo A. Morrone A, et al. Among authors: galjaard h. Hum Mutat. 1994;3(2):112-20. doi: 10.1002/humu.1380030205. Hum Mutat. 1994. PMID: 8199591

10

Elevated plasma chitotriosidase activity in various lysosomal storage disorders.

Guo Y, He W, Boer AM, Wevers RA, de Bruijn AM, Groener JE, Hollak CE, Aerts JM, Galjaard H, van Diggelen OP. Guo Y, et al. Among authors: galjaard h. J Inherit Metab Dis. 1995;18(6):717-22. doi: 10.1007/BF02436762. J Inherit Metab Dis. 1995. PMID: 8750610

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