Aminoacylase I deficiency: A novel inborn error of metabolism
Van Coster, R.N., Gerlo, E.A., Giardina, T.G., Engelke, U.F., Smet, J.E., De Praeter, C.M., Meersschaut, V.A., De Meirleir, L.J., Seneca, S.H., Devreese, B., Leroy, J.G., Herga, S., Perrier, J.P., Wevers, R.A., Lissens, W.
Published in Biochemical and biophysical research communications (23.12.2005)
Published in Biochemical and biophysical research communications (23.12.2005)
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Fungal intracranial aneurysm in a child with familial chronic mucocutaneous candidiasis
LOEYS, B. L, VAN COSTER, R. N, DEFREYNE, L. R, LEROY, J. G
Published in European journal of pediatrics (01.08.1999)
Published in European journal of pediatrics (01.08.1999)
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A Novel Disorder Caused by Defective Biosynthesis of N-Linked Oligosaccharides Due to Glucosidase I Deficiency
De Praeter, Claudine M., Gerwig, Gerrit J., Bause, Ernst, Nuytinck, Lieve K., Vliegenthart, Johannes F.G., Breuer, Wilhelm, Kamerling, Johannis P., Espeel, Marc F., Martin, Jean-Jacques R., De Paepe, Anne M., Chan, Nora Wen Chun, Dacremont, Georges A., Van Coster, Rudy N.
Published in American journal of human genetics (01.06.2000)
Published in American journal of human genetics (01.06.2000)
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Prenatal diagnosis of pyruvate carboxylase deficiency by direct measurement of catalytic activity on chorionic villi samples
Van Coster, R. N., Janssens, S., Misson, J.-P., Verloes, A., Leroy, J. G.
Published in Prenatal diagnosis (01.10.1998)
Published in Prenatal diagnosis (01.10.1998)
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Neurocutaneous Melanosis Presenting with Intracranial Amelanotic Melanoma
Vanzieleghem, Bart D, Lemmerling, Marc M, Van Coster, Rudy N
Published in American journal of neuroradiology : AJNR (01.03.1999)
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Published in American journal of neuroradiology : AJNR (01.03.1999)
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Adult Reye's syndrome: a review with new evidence for a generalized defect in intramitochondrial enzyme processing
Van Coster, R N, De Vivo, D C, Blake, D, Lombes, A, Barrett, R, DiMauro, S
Published in Neurology (01.11.1991)
Published in Neurology (01.11.1991)
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MRI findings in a neonate with cerebellar agenesis
Van Coster, Rudy N, De Praeter, Claudine M, Vanhaesebrouck, Piet J, Leroy, Jules G
Published in Pediatric neurology (01.08.1998)
Published in Pediatric neurology (01.08.1998)
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Dominant Inheritance of Sialuria, an Inborn Error of Feedback Inhibition
Leroy, Jules G., Seppala, Raili, Huizing, Marjan, Dacremont, George, De Simpel, Helena, Van Coster, Rudy N., Orvisky, Edwin, Krasnewich, Donna M., Gahl, William A.
Published in American journal of human genetics (01.06.2001)
Published in American journal of human genetics (01.06.2001)
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Processing of N-linked carbohydrate chains in a patient with glucosidase I deficiency (CDG type IIb)
Völker, Christof, De Praeter, Claudine M., Hardt, Birgit, Breuer, Willi, Kalz-Füller, Burga, Van Coster, Rudy N., Bause, Ernst
Published in Glycobiology (Oxford) (01.08.2002)
Published in Glycobiology (Oxford) (01.08.2002)
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Pyruvate dehydrogenase deficiency: molecular basis for intrafamilial heterogeneity
Fujii, T, Van Coster, R N, Old, S E, Medori, R, Winter, S, Gubits, R M, Matthews, P M, Brown, R M, Brown, G K, Dahl, H H
Published in Annals of neurology (01.07.1994)
Published in Annals of neurology (01.07.1994)
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Myopathy in very-long-chain acyl-CoA dehydrogenase deficiency: clinical and biochemical differences with the fatal cardiac phenotype
Scholte, H.R., Van Coster, R.N.A., de Jonge, P.C., Poorthuis, B.J.H.M., Jeneson, J.A.L., Andresen, B.S., Gregersen, N., de Klerk, J.B.C., Busch, H.F.M.
Published in Neuromuscular disorders : NMD (01.07.1999)
Published in Neuromuscular disorders : NMD (01.07.1999)
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