Kleijer W - Search Results

1

Pyruvate dehydrogenase complex deficiency and absence of subunit X.

De Meirleir L, Lissens W, Benelli C, Marsac C, De Klerk J, Scholte J, van Diggelen O, Kleijer W, Seneca S, Liebaers I. De Meirleir L, et al. Among authors: kleijer w. J Inherit Metab Dis. 1998 Feb;21(1):9-16. doi: 10.1023/a:1005351012066. J Inherit Metab Dis. 1998. PMID: 9501264

2

Complementation studies in human and caprine beta-mannosidosis.

Hu P, Wenger DA, van Diggelen OP, Kleijer WJ. Hu P, et al. Among authors: kleijer wj. J Inherit Metab Dis. 1991;14(1):13-7. doi: 10.1007/BF01804382. J Inherit Metab Dis. 1991. PMID: 1861455

3

Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother.

Kleijer WJ, Hu P, Thoomes R, Boer M, Huijmans JG, Blom W, Van Diggelen OP, Seemanova E, Macek M. Kleijer WJ, et al. J Inherit Metab Dis. 1990;13(6):867-72. doi: 10.1007/BF01800211. J Inherit Metab Dis. 1990. PMID: 2079835

4

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: kleijer wj. J Inherit Metab Dis. 1988;11(4):349-57. doi: 10.1007/BF01800424. J Inherit Metab Dis. 1988. PMID: 3149698

5

A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type D (MPS IIID).

He W, Voznyi YaV, Boer AM, Kleijer WJ, van Diggelen OP. He W, et al. Among authors: kleijer wj. J Inherit Metab Dis. 1993;16(6):935-41. doi: 10.1007/BF00711508. J Inherit Metab Dis. 1993. PMID: 8127069

6

Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.

Vervoort R, Islam MR, Sly WS, Zabot MT, Kleijer WJ, Chabas A, Fensom A, Young EP, Liebaers I, Lissens W. Vervoort R, et al. Among authors: kleijer wj. Am J Hum Genet. 1996 Mar;58(3):457-71. Am J Hum Genet. 1996. PMID: 8644704 Free PMC article.

7

Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region.

Vervoort R, Buist NR, Kleijer WJ, Wevers R, Fryns JP, Liebaers I, Lissens W. Vervoort R, et al. Among authors: kleijer wj. Hum Genet. 1997 Apr;99(4):462-8. doi: 10.1007/s004390050389. Hum Genet. 1997. PMID: 9099834

8

Assessment of deficiencies of fatty acyl-CoA dehydrogenases in fibroblasts, muscle and liver.

Scholte HR, Ross JD, Blom W, Boonman AM, van Diggelen OP, Hall CL, Huijmans JG, Luyt-Houwen IE, Kleijer WJ, de Klerk JB, et al. Scholte HR, et al. Among authors: kleijer wj. J Inherit Metab Dis. 1992;15(3):347-52. doi: 10.1007/BF02435973. J Inherit Metab Dis. 1992. PMID: 1405467 No abstract available.

9

beta-Mannosidase in human leukocytes and fibroblasts.

Panday RS, van Diggelen OP, Kleijer WJ, Niermeijer MF. Panday RS, et al. Among authors: kleijer wj. J Inherit Metab Dis. 1984;7(4):155-6. doi: 10.1007/BF01805598. J Inherit Metab Dis. 1984. PMID: 6441861

10

Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin.

Kleijer WJ, Keulemans JL, van der Kraan M, Geilen GG, van der Helm RM, Rafi MA, Luzi P, Wenger DA, Halley DJ, van Diggelen OP. Kleijer WJ, et al. J Inherit Metab Dis. 1997 Aug;20(4):587-94. doi: 10.1023/a:1005315311165. J Inherit Metab Dis. 1997. PMID: 9266397

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