Ploos van Amstel JK - Search Results

1

Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis.

van der Sijs-Bos CJ, Diepstraten CM, Juyn JA, Plaisier M, Giltay JC, van Spronsen FJ, Smit GP, Berger R, Smeitink JA, Poll-The BT, Ploos van Amstel JK. van der Sijs-Bos CJ, et al. Among authors: van spronsen fj, ploos van amstel jk. Hum Hered. 1996 Jul-Aug;46(4):185-90. doi: 10.1159/000154351. Hum Hered. 1996. PMID: 8807319

2

Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship.

Ploos van Amstel JK, Bergman AJ, van Beurden EA, Roijers JF, Peelen T, van den Berg IE, Poll-The BT, Kvittingen EA, Berger R. Ploos van Amstel JK, et al. Among authors: van beurden ea, van den berg ie. Hum Genet. 1996 Jan;97(1):51-9. doi: 10.1007/BF00218833. Hum Genet. 1996. PMID: 8557261

3

H714Q mutation in Wilson disease is associated with late, neurological presentation.

Houwen RH, Juyn J, Hoogenraad TU, Ploos van Amstel JK, Berger R. Houwen RH, et al. Among authors: ploos van amstel jk. J Med Genet. 1995 Jun;32(6):480-2. doi: 10.1136/jmg.32.6.480. J Med Genet. 1995. PMID: 7666402 Free PMC article.

4

Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.

Bergman AJ, van den Berg IE, Brink W, Poll-The BT, Ploos van Amstel JK, Berger R. Bergman AJ, et al. Among authors: van den berg ie, ploos van amstel jk. Hum Mutat. 1998;12(1):19-26. doi: 10.1002/(SICI)1098-1004(1998)12:1<19::AID-HUMU3>3.0.CO;2-3. Hum Mutat. 1998. PMID: 9633815

5

Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.

Sjarif DR, Sinke RJ, Duran M, Beemer FA, Kleijer WJ, Ploos van Amstel JK, Poll-The BT. Sjarif DR, et al. Among authors: ploos van amstel jk. J Med Genet. 1998 Aug;35(8):650-6. doi: 10.1136/jmg.35.8.650. J Med Genet. 1998. PMID: 9719371 Free PMC article.

6

Isolated and contiguous glycerol kinase gene disorders: a review.

Sjarif DR, Ploos van Amstel JK, Duran M, Beemer FA, Poll-The BT. Sjarif DR, et al. Among authors: ploos van amstel jk. J Inherit Metab Dis. 2000 Sep;23(6):529-47. doi: 10.1023/a:1005660826652. J Inherit Metab Dis. 2000. PMID: 11032329 Review.

7

[Genetics in medical practice after 2000].

Ploos van Amstel JK, van Haeften TW, Giltay JC. Ploos van Amstel JK, et al. Among authors: van haeften tw. Ned Tijdschr Geneeskd. 1999 Nov 6;143(45):2261-5. Ned Tijdschr Geneeskd. 1999. PMID: 10578426 Review. Dutch.

8

Different phenotypic expression in relatives with fabry disease caused by a W226X mutation.

Knol IE, Ausems MG, Lindhout D, van Diggelen OP, Verwey H, Davies J, Ploos van Amstel JK, Poll-The BT. Knol IE, et al. Among authors: van diggelen op, ploos van amstel jk. Am J Med Genet. 1999 Feb 19;82(5):436-9. doi: 10.1002/(sici)1096-8628(19990219)82:5<436::aid-ajmg14>3.0.co;2-x. Am J Med Genet. 1999. PMID: 10069717

9

Prenatal diagnosis of type I hereditary tyrosinaemia.

Ploos van Amstel JK, Jansen RP, Verjaal M, van den Berg IE, Berger R. Ploos van Amstel JK, et al. Among authors: van den berg ie. Lancet. 1994 Jul 30;344(8918):336. doi: 10.1016/s0140-6736(94)91375-7. Lancet. 1994. PMID: 7914281 No abstract available.

10

Six novel mutations in the alpha-galactosidase A gene in families with Fabry disease.

Ploos van Amstel JK, Jansen RP, de Jong JG, Hamel BC, Wevers RA. Ploos van Amstel JK, et al. Hum Mol Genet. 1994 Mar;3(3):503-5. doi: 10.1093/hmg/3.3.503. Hum Mol Genet. 1994. PMID: 8012363 No abstract available.

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