Kleijer WJ - Search Results

1

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.

2

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

3

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. J Inherit Metab Dis. 1998 Feb;21(1):9-16. doi: 10.1023/a:1005351012066. J Inherit Metab Dis. 1998. PMID: 9501264

4

beta-Glucuronidase deficiency as a cause of fetal hydrops.

Kagie MJ, Kleijer WJ, Huijmans JG, Maaswinkel-Mooy P, Kanhai HH. Kagie MJ, et al. Among authors: kleijer wj. Am J Med Genet. 1992 Mar 1;42(5):693-5. doi: 10.1002/ajmg.1320420513. Am J Med Genet. 1992. PMID: 1632440

5

A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants.

Voznyi YV, Keulemans JL, Mancini GM, Catsman-Berrevoets CE, Young E, Winchester B, Kleijer WJ, van Diggelen OP. Voznyi YV, et al. Among authors: kleijer wj. J Med Genet. 1999 Jun;36(6):471-4. J Med Genet. 1999. PMID: 10874636 Free PMC article.

6

Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.

Ligtenberg MJ, Kemp S, Sarde CO, van Geel BM, Kleijer WJ, Barth PG, Mandel JL, van Oost BA, Bolhuis PA. Ligtenberg MJ, et al. Among authors: kleijer wj. Am J Hum Genet. 1995 Jan;56(1):44-50. Am J Hum Genet. 1995. PMID: 7825602 Free PMC article.

7

Prenatal monitoring for the Hunter syndrome: the heterozygous female fetus.

Kleijer WJ, Moody PD, Liebaers I, van de Kamp JJ, Niermeijer MF. Kleijer WJ, et al. Clin Genet. 1979 Feb;15(2):113-7. doi: 10.1111/j.1399-0004.1979.tb01749.x. Clin Genet. 1979. PMID: 153809

8

Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene.

Steén-Bondeson ML, Dahl N, Tönnesen T, Kleijer WJ, Seidlitz G, Gustavson KH, Wilson PJ, Morris CP, Hopwood JJ, Pettersson U. Steén-Bondeson ML, et al. Among authors: kleijer wj. Hum Mol Genet. 1992 Jun;1(3):195-8. doi: 10.1093/hmg/1.3.195. Hum Mol Genet. 1992. PMID: 1303177

9

Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation.

Sjarif DR, Hellerud C, van Amstel JK, Kleijer WJ, Sperl W, Lacombe D, Sass JO, Beemer FA, Duran M, Poll-The BT. Sjarif DR, et al. Among authors: kleijer wj. Eur J Hum Genet. 2004 Jun;12(6):424-32. doi: 10.1038/sj.ejhg.5201172. Eur J Hum Genet. 2004. PMID: 15026783

10

Prenatal diagnosis of Morquio disease type A using a simple fluorometric enzyme assay.

Zhao H, Van Diggelen OP, Thoomes R, Huijmans J, Young E, Mazurczak T, Kleijer WJ. Zhao H, et al. Among authors: kleijer wj. Prenat Diagn. 1990 Feb;10(2):85-91. doi: 10.1002/pd.1970100204. Prenat Diagn. 1990. PMID: 2111546 Free article.

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