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See detailCobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa. Debre type
Van Maldergem, Lionel ULg; Yuksel-Apak, M.; Kayserili, H. et al

in Neurology (2008), 71(20), 1602-1608

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See detailGenetic disorders and cerebellar structural abnormalities in childhood
RAMAEKERS, Vincent ULg; Heimann, G.; Reul, J. et al

in Brain : a journal of neurology (1997), 120 ( Pt 10)

Amongst 78 patients with either unilateral or bilateral (ponto-) cerebellar hypoplasia, atrophy or lesions on neuro-imaging (CT and/or MRI), 16 showed unilateral hypoplasia or lesions, 15 vermis defects ... [more ▼]

Amongst 78 patients with either unilateral or bilateral (ponto-) cerebellar hypoplasia, atrophy or lesions on neuro-imaging (CT and/or MRI), 16 showed unilateral hypoplasia or lesions, 15 vermis defects, nine pontocerebellar hypoplasia, 10 non-progressive conditions with bilateral cerebellar hemisphere hypoplasia or lesions and 28 progressive cerebellar atrophy. Known genetic conditions did not occur with unilateral cerebellar involvement, whereas a high incidence of mostly autosomal recessively inherited diseases could be diagnosed in more than half of the patients with either pontocerebellar hypoplasia or progressive bilateral cerebellar atrophy. A minority of patients with vermis defects or non-progressive cerebellar hypoplasia suffered from genetic conditions. An overview of the literature is presented describing genetic and non-genetic syndromes, or metabolic disorders associated with cerebellar structural abnormalities. From these data, new proposals for improved diagnostic investigations will be presented. [less ▲]

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See detailCarbohydrate-deficient glycoprotein syndrome type II.
Jaeken, J.; De Cock, P.; Stibler, H. et al

in Journal of inherited metabolic disease (1993), 16(6), 1041

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See detailA new variant of the carbohydrate deficient glycoproteins syndrome.
RAMAEKERS, Vincent ULg; Stibler, H.; Kint, J. et al

in Journal of inherited metabolic disease (1991), 14(3), 385-8

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