Keulemans JL[au] - Search Results

Year	Number of Results
1992	1
1993	1
1996	4
1997	2
1999	4
2001	5
2002	1
2005	2
2006	1
2007	1
2024	0

1

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

Karpova EA, Voznyi YaV, Keulemans JL, Hoogeveen AT, Winchester B, Tsvetkova IV, van Diggelen OP. Karpova EA, et al. Among authors: keulemans jl. J Inherit Metab Dis. 1996;19(3):278-85. doi: 10.1007/BF01799255. J Inherit Metab Dis. 1996. PMID: 8803769 Free article.

2

Applications of a new fluorimetric enzyme assay for the diagnosis of aspartylglucosaminuria.

Voznyi YaV, Keulemans JL, Kleijer WJ, Aula P, Gray GR, van Diggelen OP. Voznyi YaV, et al. Among authors: keulemans jl. J Inherit Metab Dis. 1993;16(6):929-34. doi: 10.1007/BF00711507. J Inherit Metab Dis. 1993. PMID: 8127068

3

A rapid fluorogenic palmitoyl-protein thioesterase assay: pre- and postnatal diagnosis of INCL.

van Diggelen OP, Keulemans JL, Winchester B, Hofman IL, Vanhanen SL, Santavuori P, Voznyi YV. van Diggelen OP, et al. Among authors: keulemans jl. Mol Genet Metab. 1999 Apr;66(4):240-4. doi: 10.1006/mgme.1999.2809. Mol Genet Metab. 1999. PMID: 10191108

4

Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.

Kroos MA, Pomponio RJ, Hagemans ML, Keulemans JL, Phipps M, DeRiso M, Palmer RE, Ausems MG, Van der Beek NA, Van Diggelen OP, Halley DJ, Van der Ploeg AT, Reuser AJ. Kroos MA, et al. Among authors: keulemans jl. Neurology. 2007 Jan 9;68(2):110-5. doi: 10.1212/01.wnl.0000252798.25690.76. Neurology. 2007. PMID: 17210890

5

A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease).

Voznyi YV, Keulemans JL, van Diggelen OP. Voznyi YV, et al. Among authors: keulemans jl. J Inherit Metab Dis. 2001 Nov;24(6):675-80. doi: 10.1023/a:1012763026526. J Inherit Metab Dis. 2001. PMID: 11768586

6

Prenatal diagnosis of the Hunter syndrome and the introduction of a new fluorimetric enzyme assay.

Keulemans JL, Sinigerska I, Garritsen VH, Huijmans JG, Voznyi YV, van Diggelen OP, Kleijer WJ. Keulemans JL, et al. Prenat Diagn. 2002 Nov;22(11):1016-21. doi: 10.1002/pd.457. Prenat Diagn. 2002. PMID: 12424767

7

A new diagnostic assay for glycogen storage disease type II in mixed leukocytes.

Okumiya T, Keulemans JL, Kroos MA, Van der Beek NM, Boer MA, Takeuchi H, Van Diggelen OP, Reuser AJ. Okumiya T, et al. Among authors: keulemans jl. Mol Genet Metab. 2006 May;88(1):22-8. doi: 10.1016/j.ymgme.2005.10.016. Epub 2005 Dec 15. Mol Genet Metab. 2006. PMID: 16359900

8

Prenatal diagnosis of Sanfilippo A syndrome: experience in 35 pregnancies at risk and the use of a new fluorogenic substrate for the heparin sulphamidase assay.

Kleijer WJ, Karpova EA, Geilen GC, Keulemans JL, Huijmans JG, Tsvetkova IV, Voznyi YaV, van Diggelen OP. Kleijer WJ, et al. Among authors: keulemans jl. Prenat Diagn. 1996 Sep;16(9):829-35. doi: 10.1002/(SICI)1097-0223(199609)16:9<829::AID-PD953>3.0.CO;2-H. Prenat Diagn. 1996. PMID: 8905897

9

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. Among authors: keulemans jl. J Inherit Metab Dis. 1997 Aug;20(4):587-94. doi: 10.1023/a:1005315311165. J Inherit Metab Dis. 1997. PMID: 9266397

10

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy?

Bakker HD, de Sonnaville ML, Vreken P, Abeling NG, Groener JE, Keulemans JL, van Diggelen OP. Bakker HD, et al. Among authors: keulemans jl. Eur J Hum Genet. 2001 Feb;9(2):91-6. doi: 10.1038/sj.ejhg.5200598. Eur J Hum Genet. 2001. PMID: 11313741

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

21 results

Results by year

Search Page

Filters

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

Search Results

21 results

Results by year