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1. • Journal article

   • 

   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)
2. • 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)
3. • Journal article

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   Serum Thyroglobulin Levels in Preterm Neonates

   De Nayer, Pierre-Pascal[UCL] Cornette, C. Vanderschueren, M. Eggermont, E. Devlieger, H. Jaeken, J. Beckers, Christian[UCL] (1984) Clinical Endocrinology — Vol. 21, no. 2, p. 149-153 (1984)
4. • Journal article

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   Prenatal diagnosis in CDG1 families: beware of heterogeneity

   Matthijs, G. Schollen, E. Cassiman, JJ. Cormier-Daire, V Jaeken, J. Van Schaftingen, Emile[UCL] (1998) European Journal of Human Genetics — Vol. 6, no. 2, p. 99-104 (1998)
5. • 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)
6. • 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) —
7. • Journal article

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   Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.

   Marie, S. Cuppens, Harry[UCL] Heuterspreute, M Jaspers, Martine[UCL] Tola, E Z Gu, X X Legius, Eric[UCL] Vincent, Marie-Françoise[UCL] Jaeken, J. Cassiman, J J Van den Berghe, Georges[UCL] (1999) Human mutation — Vol. 13, no. 3, p. 197-202 (1999)
8. • 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)
9. • 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)
10. • 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)
11. • 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)
12. • Speech

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    Heterogeneity in Adenylosuccinase Deficiency

    Jaeken, J. Van den Berghe, Georges[UCL] (1985) —
13. • 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)
14. • 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) —
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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    Inborn errors of the purine nucleotide cycle: adenylosuccinase deficiency

    Van den Berghe, Georges[UCL] Vincent, Marie-Françoise[UCL] Jaeken, J. (1997) Journal of Inherited Metabolic Disease — Vol. 20, no. 2, p. 193-202 (1997)
17. • 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)
18. • 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)
19. • 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)
20. • 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)
21. • Journal article

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    A Mutation in Adenylosuccinate Lyase Associated With Mental-retardation and Autistic Features

    Stone, RL. Aimi, J. Barshop, BA. Jaeken, J. Van den Berghe, Georges[UCL] Zalkin, H. Dixon, JE. (1992) Nature Genetics — Vol. 1, no. 1, p. 59-63 (1992)
22. • 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)
23. • 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) —
24. • 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)
25. • 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)

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