Janse HC - Search Results

1

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.

2

First-trimester diagnosis of galactosaemia.

Kleijer WJ, Janse HC, van Diggelen OP, Macek M, Hajek Z, Gillett MG, Holton JB. Kleijer WJ, et al. Among authors: janse hc. Lancet. 1986 Mar 29;1(8483):748. doi: 10.1016/s0140-6736(86)91149-9. Lancet. 1986. PMID: 2870264 No abstract available.

3

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

4

First trimester diagnosis of Hunter syndrome on chorionic villi.

Kleijer WJ, van Diggelen OP, Janse HC, Galjaard H, Dumez Y, Boué J. Kleijer WJ, et al. Among authors: janse hc. Lancet. 1984 Aug 25;2(8400):472. doi: 10.1016/s0140-6736(84)92952-0. Lancet. 1984. PMID: 6147543 No abstract available.

5

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

6

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

7

First-trimester diagnosis of mucopolysaccharidosis IIIA (Sanfilippo A disease).

Kleijer WJ, Janse HC, Vosters RP, Niermeijer MF, van de Kamp JJ. Kleijer WJ, et al. Among authors: janse hc. N Engl J Med. 1986 Jan 16;314(3):185-6. doi: 10.1056/NEJM198601163140319. N Engl J Med. 1986. PMID: 3079882 No abstract available.

8

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

9

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

10

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

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