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Paquier, PF
van Mourik, M
Van Dongen, HR
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Citation: Ms. Van Der Knaap et al., D-2-hydroxyglutaric aciduria: Biochemical marker or clinical disease entity?, ANN NEUROL, 45(1), 1999, pp. 111-119
Authors:
de Vries, BBA
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Citation: Bba. De Vries et al., First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis, PRENAT DIAG, 19(6), 1999, pp. 559-562
Authors:
Catsman-Berrevoets, CE
Van Dongen, HR
Mulder, PGH
Geuze, DPY
Paquier, PF
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Citation: Ce. Catsman-berrevoets et al., Tumour type and size are high risk factors for the syndrome of "cerebellar" mutism and subsequent dysarthria, J NE NE PSY, 67(6), 1999, pp. 755-757
Authors:
van den Ouweland, AMW
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Catsman-Berrevoets, CE
Citation: Amw. Van Den Ouweland et al., Angelman syndrome: AS phenotype correlated with specific EEG pattern may result in a high detection rate of mutations in the UBE3A gene, J MED GENET, 36(9), 1999, pp. 723-724
Authors:
Voznyi, YV
Keulemans, JLM
Mancini, GMS
Catsman-Berrevoets, CE
Young, E
Winchester, B
Kleijer, WJ
van Diggelen, OP
Citation: Yv. Voznyi et al., A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants, J MED GENET, 36(6), 1999, pp. 471-474