van Diggelen OP - Search Results

1

Complementation studies in human and caprine beta-mannosidosis.

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

2

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

3

beta-Mannosidase in human leukocytes and fibroblasts.

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

4

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: van diggelen op. J Inherit Metab Dis. 1993;16(6):935-41. doi: 10.1007/BF00711508. J Inherit Metab Dis. 1993. PMID: 8127069

5

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: van der helm rm, van diggelen op, van der kraan m. J Inherit Metab Dis. 1997 Aug;20(4):587-94. doi: 10.1023/a:1005315311165. J Inherit Metab Dis. 1997. PMID: 9266397

6

Prenatal analyses in a pregnancy at risk for beta-mannosidosis.

Kleijer WJ, Geilen GC, Van Diggelen OP, Wevers RA, Los FJ. Kleijer WJ, et al. Among authors: van diggelen op. Prenat Diagn. 1992 Oct;12(10):841-3. doi: 10.1002/pd.1970121011. Prenat Diagn. 1992. PMID: 1475254

7

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. Among authors: van diggelen op. J Inherit Metab Dis. 1990;13(6):867-72. doi: 10.1007/BF01800211. J Inherit Metab Dis. 1990. PMID: 2079835

8

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

9

Prenatal diagnosis of glycogen storage disease type II: enzyme assay or mutation analysis?

Kleijer WJ, van der Kraan M, Kroos MA, Groener JE, van Diggelen OP, Reuser AJ, van der Ploeg AT. Kleijer WJ, et al. Among authors: van der ploeg at, van diggelen op, van der kraan m. Pediatr Res. 1995 Jul;38(1):103-6. doi: 10.1203/00006450-199507000-00018. Pediatr Res. 1995. PMID: 7478785

10

Glycogenosis type II (acid maltase deficiency).

Reuser AJ, Kroos MA, Hermans MM, Bijvoet AG, Verbeet MP, Van Diggelen OP, Kleijer WJ, Van der Ploeg AT. Reuser AJ, et al. Among authors: van der ploeg at, van diggelen op. Muscle Nerve Suppl. 1995;3:S61-9. doi: 10.1002/mus.880181414. Muscle Nerve Suppl. 1995. PMID: 7603530 Free article. Review.

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