Janse HC - Search Results

1

Prenatal diagnosis of Niemann-Pick disease type C.

de Winter JM, Janse HC, van Diggelen OP, Los FJ, Beemer FA, Kleijer WJ. de Winter JM, et al. Among authors: janse hc. Clin Chim Acta. 1992 Jun 30;208(3):173-81. doi: 10.1016/0009-8981(92)90074-z. Clin Chim Acta. 1992. PMID: 1499136

2

Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection.

Mancini GM, Hu P, Verheijen FW, van Diggelen OP, Janse HC, Kleijer WJ, Beemer FA, Jennekens FG. Mancini GM, et al. Among authors: janse hc. Eur J Pediatr. 1992 Aug;151(8):590-5. doi: 10.1007/BF01957729. Eur J Pediatr. 1992. PMID: 1505579

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: janse hc. 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

Debranching enzyme in fibroblasts, amniotic fluid cells and chorionic villi: pre- and postnatal diagnosis of glycogenosis type III.

van Diggelen OP, Janse HC, Smit GP. van Diggelen OP, et al. Among authors: janse hc. Clin Chim Acta. 1985 Jul 15;149(2-3):129-34. doi: 10.1016/0009-8981(85)90326-2. Clin Chim Acta. 1985. PMID: 3161667

5

First trimester diagnosis of Wolman's disease.

van Diggelen OP, von Koskull H, Ammälä P, Vredeveldt GT, Janse HC, Kleijer WJ. van Diggelen OP, et al. Among authors: janse hc. Prenat Diagn. 1988 Nov;8(9):661-3. doi: 10.1002/pd.1970080905. Prenat Diagn. 1988. PMID: 3211854

6

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: janse hc. Pediatr Res. 1996 Jun;39(6):1067-71. doi: 10.1203/00006450-199606000-00022. Pediatr Res. 1996. PMID: 8725271

7

Biosynthesis of human alpha-N-acetylgalactosaminidase: defective phosphorylation and maturation in infantile alpha-NAGA deficiency.

Hu P, Reuser AJ, Janse HC, Kleijer WJ, Schindler D, Sakuraba H, Tsuji A, Suzuki Y, van Diggelen OP. Hu P, et al. Among authors: janse hc. Biochem Biophys Res Commun. 1991 Mar 29;175(3):1097-103. doi: 10.1016/0006-291x(91)91678-6. Biochem Biophys Res Commun. 1991. PMID: 2025241

8

Concanavalin A variants of alpha-fetoprotein in first trimester fetuses with trisomy 21 and with normal karyotypes.

Los FJ, Janse HC, Brandenburg H, de Vrij RW, de Bruijn HW. Los FJ, et al. Among authors: janse hc. Gynecol Obstet Invest. 1995;39(3):149-52. doi: 10.1159/000292398. Gynecol Obstet Invest. 1995. PMID: 7540586

9

Amniotic fluid disaccharidases in the prenatal detection of cystic fibrosis.

Kleijer WJ, Janse HC, van Diggelen OP, Niermeijer MF. Kleijer WJ, et al. Among authors: janse hc. Prenat Diagn. 1985 Mar-Apr;5(2):135-43. doi: 10.1002/pd.1970050207. Prenat Diagn. 1985. PMID: 3991466

10

Disaccharidases in amniotic fluid as possible prenatal marker for cystic fibrosis.

van Diggelen OP, Janse HC, Kleijer WJ. van Diggelen OP, et al. Among authors: janse hc. Lancet. 1983 Apr 9;1(8328):817. doi: 10.1016/s0140-6736(83)91869-x. Lancet. 1983. PMID: 6132147 No abstract available.

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

20 results

Search Page

Filters