Gabreëls FJ - Search Results

1

[Three hypotonic neonates with hypertrophic cardiomyopathy: Pompe's disease].

Willemsen MA, Jira PE, Gabreëls FJ, van der Ploeg AT, Smeitink JA. Willemsen MA, et al. Among authors: gabreels fj. Ned Tijdschr Geneeskd. 1998 Jun 13;142(24):1388-92. Ned Tijdschr Geneeskd. 1998. PMID: 9752027 Dutch.

2

Multicore myopathy with restrictive cardiomyopathy.

Willemsen MA, van Oort AM, ter Laak HJ, Sengers RC, Gabreëls FJ. Willemsen MA, et al. Among authors: gabreels fj. Acta Paediatr. 1997 Nov;86(11):1271-4. doi: 10.1111/j.1651-2227.1997.tb14862.x. Acta Paediatr. 1997. PMID: 9401528 Review.

3

Clinical heterogeneity in respiratory chain complex III deficiency in childhood.

Mourmans J, Wendel U, Bentlage HA, Trijbels JM, Smeitink JA, de Coo IF, Gabreëls FJ, Sengers RC, Ruitenbeek W. Mourmans J, et al. Among authors: gabreels fj. J Neurol Sci. 1997 Jul;149(1):111-7. doi: 10.1016/s0022-510x(97)05379-3. J Neurol Sci. 1997. PMID: 9168175

4

Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency.

Rubio-Gozalbo ME, Smeitink JA, Ruitenbeek W, Ter Laak H, Mullaart RA, Schuelke M, Mariman EC, Sengers RC, Gabreëls FJ. Rubio-Gozalbo ME, et al. Among authors: gabreels fj. Neurology. 1999 Jan 15;52(2):383-6. doi: 10.1212/wnl.52.2.383. Neurology. 1999. PMID: 9932961

5

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.

6

Preterm birth in Sjögren-Larsson syndrome.

Willemsen MA, Rotteveel JJ, van Domburg PH, Gabreëls FJ, Mayatepek E, Sengers RC. Willemsen MA, et al. Among authors: gabreels fj. Neuropediatrics. 1999 Dec;30(6):325-7. doi: 10.1055/s-2007-973513. Neuropediatrics. 1999. PMID: 10706028

7

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

8

Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome.

Willemsen MA, IJlst L, Steijlen PM, Rotteveel JJ, de Jong JG, van Domburg PH, Mayatepek E, Gabreëls FJ, Wanders RJ. Willemsen MA, et al. Among authors: gabreels fj. Brain. 2001 Jul;124(Pt 7):1426-37. doi: 10.1093/brain/124.7.1426. Brain. 2001. PMID: 11408337 Review.

9

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.

10

MR imaging and proton MR spectroscopic studies in Sjögren-Larsson syndrome: characterization of the leukoencephalopathy.

Willemsen MA, Van Der Graaf M, Van Der Knaap MS, Heerschap A, Van Domburg PH, Gabreëls FJ, Rotteveel JJ. Willemsen MA, et al. Among authors: gabreels fj. AJNR Am J Neuroradiol. 2004 Apr;25(4):649-57. AJNR Am J Neuroradiol. 2004. PMID: 15090362 Free PMC article.

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