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1. • Speech

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   Heterogeneity in Adenylosuccinase Deficiency

   Jaeken, J. Van den Berghe, Georges[UCL] (1985) —
2. • Journal article

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   Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I.

   Van Schaftingen, Emile[UCL] Jaeken, J. (1995) FEBS letters — Vol. 377, no. 3, p. 318-20 (1995)
3. • Journal article

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   Adenylosuccinase Deficiency - a Newly Recognized Variant

   Jaeken, J. Vandenbergh, F. Vincent, Marie-Françoise[UCL] Casaer, P. Van den Berghe, Georges[UCL] (1992) Journal of Inherited Metabolic Disease — Vol. 15, no. 3, p. 416-418 (1992)
4. • Speech

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   Enzymatic replacement therapy with rhGAA in Brazilian Pompe patients

   van Capelle, C. van der Beek, N. Hagemans, M. Arts, W. Jaeken, J.[UCL] Lee, P.[UCL] Reuser, A. van der Ploeg, A. (2007) 12th International Congress of the World-Muscle-Society — Giardini Naxos(Italy)
5. • Journal article

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   Adenylosuccinase Deficiency - An Inborn Error of Purine Nucleotide Synthesis

   Jaeken, J. Wadman, SK. Duran, M. Vansprang, FJ. Beemer, FA. Holl, RA. Theunissen, PM. Decock, P. Vandenbergh, F. Vincent, Marie-Françoise[UCL] Van den Berghe, Georges[UCL] (1988) European Journal of Pediatrics — Vol. 148, no. 2, p. 126-131 (1988)
6. • Journal article

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   Radiochemical assay of adenylosuccinase: demonstration of parallel loss of activity toward both adenylosuccinate and succinylaminoimidazole carboxamide ribotide in liver of patients with the enzyme defect.

   Van den Bergh, F Vincent, Marie-Françoise[UCL] Jaeken, J. Van den Berghe, Georges[UCL] (1991) Analytical biochemistry — Vol. 193, no. 2, p. 287-91 (1991)
7. • Journal article

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   Adenylosuccinate lyase deficiency: an update.

   Van den Berghe, Georges[UCL] Van den Bergh, F Vincent, Marie-Françoise[UCL] Jaeken, J. (1994) Advances in experimental medicine and biology — Vol. 370, p. 363-6 (1994)
8. • Journal article

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   An Infantile Autistic Syndrome Characterized By the Presence of Succinyl Purines in Body-fluids

   Jaeken, J. Van den Berghe, Georges[UCL] (1984) The Lancet — Vol. 2, no. 8411, p. 1058-1061 (1984)
9. • Speech

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   2-year follow-up of enzyme therapy in 5 children with Pompe disease

   van Capelle, C. van der Beek, N. A. M. E. Hagemans, M. L. C. Arts, W. F. M. Jaeken, J. Lee, P. J. Reuser, A. J. Van der Ploeg, A. T. (2007) —
10. • Speech

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    Transitory Euthyroid Sick Syndrome in Preterm Infants of Fetal Age Less-than 31 Weeks

    Eggermont, E. Vanderschueren, M. Smeets, Eric[UCL] Vanacker, G. Jaeken, J. Devlieger, H. De Nayer, Pierre-Pascal[UCL] Beckers, Christian[UCL] (1981) —
11. • Journal article

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    Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: Outcome of treatment with amino acids

    De Koning, TJ Duran, M. Van Maldergem, L. Pineda, M Dorland, L Gooskens, R Jaeken, J. Poll-The, BT (2002) Journal of Inherited Metabolic Disease — Vol. 25, no. 2, p. 119-125 (2002)
12. • Journal article

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    Carbohydrate-deficient glycoprotein syndrome: Beyond the screen

    Fletcher, JM Matthijs, G. Jaeken, J. Van Schaftingen, Emile[UCL] Nelson, PV (2000) Journal of Inherited Metabolic Disease — Vol. 23, no. 4, p. 396-398 (2000)
13. • Journal article

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    Screening for Inborn-errors of Purine Synthesis

    Jaeken, J. Van den Berghe, Georges[UCL] (1989) The Lancet — Vol. 1, no. 8636, p. 500-500 (1989)
14. • Journal article

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    Clinical and biochemical findings before and after portacaval shunt in a girl with type Ib glycogen storage disease.

    Corbeel, L. Hue, Louis[UCL] Lederer, B. de Barsy, Thierry[UCL] Van den Berghe, Georges[UCL] Devlieger, H. Jaeken, J. Bracke, P. Eeckels, R. (1981) Pediatric research — Vol. 15, no. 1, p. 58-61 (1981)
15. • Journal article

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    Adenylosuccinase activity and succinylpurine production in fibroblasts of adenylosuccinase-deficient children.

    Van den Bergh, F Vincent, Marie-Françoise[UCL] Jaeken, J. Van den Berghe, Georges[UCL] (1991) Advances in experimental medicine and biology — Vol. 309B, p. 277-80 (1991)
16. • Journal article

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    The Thyroid-system Function in Preterm Infants of Postmenstrual Ages of 31 Weeks Or Less - Evidence for a Transient Lazy Thyroid System

    Eggermont, E. Vanderschuerenlodeweyckx, M. De Nayer, Pierre-Pascal[UCL] Smeets, Eric[UCL] Vanacker, G. Cornette, C. Jaeken, J. Devlieger, H. Eeckels, R. Beckers, Christian[UCL] (1984) Helvetica Paediatrica Acta — Vol. 39, no. 3, p. 209-22 (1984)
17. • Journal article

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    Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency - A neurometabolic disorder associated with reduced L-serine biosynthesis

    Klomp, LWJ de Koning, TJ Malingre, HEM van Beurden, EACM Brink, M Opdam, FL Duran, M. Jaeken, J. Pineda, M Van Maldergem, L. Poll-The, BT van den Berg, IET Berger, R. (2000) American Journal of Human Genetics — Vol. 67, no. 6, p. 1389-1399 (2000)
18. • Speech

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    Dilated cardiomyopathy and hypertransaminasemia in a congenital disorder of glycosylation type-Ix

    Knopf, C. Berkowitz, D. Lorber, A. Mullerad, J. Cherurg, S. Hennet, T. Van Schaftingen, Emile[UCL] Jaeken, J. Mandel, H. (2006) —
19. • Speech

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    Exhaustive mutation analysis of the PMM2 gene in patients with the carbohydrate-deficient glycoprotein syndrome type I (CDG1 or Jaeken syndrome) and cloning of the mouse Pmm1 and Pmm2 genes.

    Matthijs, G. Schollen, E. Jaeken, J. Van Schaftingen, Emile[UCL] Cassiman, JJ. (1997) —
20. • Journal article

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    Residual adenylosuccinase activities in fibroblasts of adenylosuccinase-deficient children: parallel deficiency with adenylosuccinate and succinyl-AICAR in profoundly retarded patients and non-parallel deficiency in a mildly retarded girl.

    Van den Bergh, F Vincent, Marie-Françoise[UCL] Jaeken, J. Van den Berghe, Georges[UCL] (1993) Journal of inherited metabolic disease — Vol. 16, no. 2, p. 415-24 (1993)
21. • Journal article

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    Functional studies in fibroblasts of adenylosuccinase-deficient children.

    Van den Bergh, F Vincent, Marie-Françoise[UCL] Jaeken, J. Van den Berghe, Georges[UCL] (1993) Journal of inherited metabolic disease — Vol. 16, no. 2, p. 425-34 (1993)
22. • Speech

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    Clinical and Biochemical Findings Before and After Portacaval-shunt (pcs) in Type Ib Glycogen Disease (gsd)

    Corbeel, L. Eeckels, R. Van den Berghe, Georges[UCL] Devlieger, H. Jaeken, J. Bracke, P. Hue, Louis[UCL] Lederer, B. de Barsy, Thierry[UCL] (1980) —
23. • Journal article

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    Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II

    Foulquier, F Vasile, E Schollen, E. Callewaert, N Raemaekers, T Quelhas, D Jaeken, J. Mills, P. Winchester, B. Krieger, M Annaert, W. Matthijs, G. (2006) National Academy of Sciences. Proceedings — Vol. 103, no. 10, p. 3764-3769 (2006)
24. • Speech

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    A New, Unusually Mild Type Ii Congenital Disorder of Glycosylation

    Zeevaert, R.[UCL] Schollen, E.[UCL] Mills, P.[UCL] Lagae, Lieven[UCL] Carchon, H.[UCL] Winchester, B.[UCL] Matthijs, G.[UCL] Jaeken, J.[UCL] (2005) —
25. • Speech

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    Isolated increase of trisialotransferrin in the serum of CDG patients with evidence for a defect in demannosylation

    Zeevaert, R. Carchon, H. Mills, P. Winchester, B. Jaeken, J. (2006) —

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