Gabreëls FJ - Search Results

1

A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC).

Wevers RA, de Rijk-van Andel JF, Bräutigam C, Geurtz B, van den Heuvel LP, Steenbergen-Spanjers GC, Smeitink JA, Hoffmann GF, Gabreëls FJ. Wevers RA, et al. Among authors: gabreels fj. J Inherit Metab Dis. 1999 Jun;22(4):364-73. doi: 10.1023/a:1005539803576. J Inherit Metab Dis. 1999. PMID: 10407773 Review.

2

L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency.

de Rijk-Van Andel JF, Gabreëls FJ, Geurtz B, Steenbergen-Spanjers GC, van Den Heuvel LP, Smeitink JA, Wevers RA. de Rijk-Van Andel JF, et al. Among authors: gabreels fj. Neurology. 2000 Dec 26;55(12):1926-8. doi: 10.1212/wnl.55.12.1926. Neurology. 2000. PMID: 11134401

3

A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?

van der Put NM, Gabreëls F, Stevens EM, Smeitink JA, Trijbels FJ, Eskes TK, van den Heuvel LP, Blom HJ. van der Put NM, et al. Among authors: gabreels f. Am J Hum Genet. 1998 May;62(5):1044-51. doi: 10.1086/301825. Am J Hum Genet. 1998. PMID: 9545395 Free PMC article.

4

Standardized method for high-resolution 1H-NMR of cerebrospinal fluid.

Wevers RA, Engelke U, Wendel U, de Jong JG, Gabreëls FJ, Heerschap A. Wevers RA, et al. Among authors: gabreels fj. Clin Chem. 1995 May;41(5):744-51. Clin Chem. 1995. PMID: 7729054

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: gabreels fj. 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: gabreels fj. Hum Genet. 1997 Aug;100(2):284-6. doi: 10.1007/s004390050506. Hum Genet. 1997. PMID: 9254865

7

Biochemical hallmarks of tyrosine hydroxylase deficiency.

Bräutigam C, Wevers RA, Jansen RJ, Smeitink JA, de Rijk-van Andel JF, Gabreëls FJ, Hoffmann GF. Bräutigam C, et al. Among authors: gabreels fj. Clin Chem. 1998 Sep;44(9):1897-904. Clin Chem. 1998. PMID: 9732974

8

Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis.

Verrips A, van Engelen BG, Wevers RA, van Geel BM, Cruysberg JR, van den Heuvel LP, Keyser A, Gabreëls FJ. Verrips A, et al. Among authors: gabreels fj. Arch Neurol. 2000 Apr;57(4):520-4. doi: 10.1001/archneur.57.4.520. Arch Neurol. 2000. PMID: 10768627 Review.

9

Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.

Verrips A, Hoefsloot LH, Steenbergen GC, Theelen JP, Wevers RA, Gabreëls FJ, van Engelen BG, van den Heuvel LP. Verrips A, et al. Among authors: gabreels fj. Brain. 2000 May;123 ( Pt 5):908-19. doi: 10.1093/brain/123.5.908. Brain. 2000. PMID: 10775536

10

GM2-gangliosidosis. Clinical and biochemical aspects of four cases.

Praamstra P, Wevers RA, Gabreëls FJ, Rotteveel JJ, Renier WO, Sengers RC, Lamers KJ. Praamstra P, et al. Among authors: gabreels fj. Clin Neurol Neurosurg. 1990;92(2):143-8. doi: 10.1016/0303-8467(90)90090-r. Clin Neurol Neurosurg. 1990. PMID: 2163796

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