Wevers RA - Search Results

1

A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder.

Janssen RJ, Wevers RA, Häussler M, Luyten JA, Steenbergen-Spanjers GC, Hoffmann GF, Nagatsu T, Van den Heuvel LP. Janssen RJ, et al. Among authors: wevers ra. Ann Hum Genet. 2000 Sep;64(Pt 5):375-82. doi: 10.1046/j.1469-1809.2000.6450375.x. Ann Hum Genet. 2000. PMID: 11281275

2

A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene.

Vervoort R, Islam MR, Sly W, Chabas A, Wevers R, de Jong J, Liebaers I, Lissens W. Vervoort R, et al. Am J Hum Genet. 1995 Oct;57(4):798-804. Am J Hum Genet. 1995. PMID: 7573038 Free PMC article.

3

Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant.

Luyten JA, Wenink PW, Steenbergen-Spanjers GC, Wevers RA, Ploos van Amstel HK, de Jong JG, van den Heuvel LP. Luyten JA, et al. Among authors: wevers ra. Hum Genet. 1995 Sep;96(3):357-60. doi: 10.1007/BF00210424. Hum Genet. 1995. PMID: 7649558 Free article.

4

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. Among authors: wevers ra. 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.

5

Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis.

Verrips A, Steenbergen-Spanjers GC, Luyten JA, van den Heuvel LP, Keyser A, Gabreëls FJ, Wevers RA. Verrips A, et al. Among authors: wevers ra. Hum Genet. 1996 Dec;98(6):735-7. doi: 10.1007/s004390050294. Hum Genet. 1996. PMID: 8931710

6

Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis.

Verrips A, Steenbergen-Spanjers GC, Luyten JA, Wevers RA, Wokke JH, Gabreëls FJ, Wolthers BG, van den Heuvel LP. Verrips A, et al. Among authors: wevers ra. Hum Genet. 1997 Aug;100(2):284-6. doi: 10.1007/s004390050506. Hum Genet. 1997. PMID: 9254865

7

Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins.

Jaeken J, Artigas J, Barone R, Fiumara A, de Koning TJ, Poll-The BT, de Rijk-van Andel JF, Hoffmann GF, Assmann B, Mayatepek E, Pineda M, Vilaseca MA, Saudubray JM, Schlüter B, Wevers R, Van Schaftingen E. Jaeken J, et al. J Inherit Metab Dis. 1997 Jul;20(3):447-9. doi: 10.1023/a:1005331523477. J Inherit Metab Dis. 1997. PMID: 9266378 Clinical Trial. No abstract available.

8

Cerebrospinal fluid investigations for neurometabolic disorders.

Hoffmann GF, Surtees RA, Wevers RA. Hoffmann GF, et al. Among authors: wevers ra. Neuropediatrics. 1998 Apr;29(2):59-71. doi: 10.1055/s-2007-973538. Neuropediatrics. 1998. PMID: 9638660 Review.

9

Genetic characteristics of myoadenylate deaminase deficiency.

Verzijl HT, van Engelen BG, Luyten JA, Steenbergen GC, van den Heuvel LP, ter Laak HJ, Padberg GW, Wevers RA. Verzijl HT, et al. Among authors: wevers ra. Ann Neurol. 1998 Jul;44(1):140-3. doi: 10.1002/ana.410440124. Ann Neurol. 1998. PMID: 9667605 Clinical Trial.

10

A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population.

van den Heuvel LP, Luiten B, Smeitink JA, de Rijk-van Andel JF, Hyland K, Steenbergen-Spanjers GC, Janssen RJ, Wevers RA. van den Heuvel LP, et al. Among authors: wevers ra. Hum Genet. 1998 Jun;102(6):644-6. doi: 10.1007/s004390050756. Hum Genet. 1998. PMID: 9703425

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

535 results

Search Page

Filters