EE196 Real World Evidence on the Burden of Disease for Patients and Their Nearest Relatives - the Case of Duchenne Muscular Dystrophy von Rudolfsen, J.H., Vissing, J., Werlauff, U., Olesen, C., Illum, N., Olsen, J., Poulsen, P.B., Strand, M., Born, A.P.

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G.P.19.07 Gene and protein expression of muscle specific genes in children von Petersson, S, Schroeder, H, Jensen, C, Illum, N

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Muscular response to the first three months of deflazacort treatment in boys with Duchenne muscular dystrophy von Jensen, L, Petersson, S J, Illum, N O, Laugaard-Jacobsen, H C, Thelle, T, Jørgensen, L H, Schrøder, H D

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Eponymous Jacobsen syndrome: Mapping the breakpoints of the original family suggests an association between the distal 1.1 Mb of chromosome 21 and osteoporosis in Down syndrome von Tümer, Z., Henriksen, A.M., Bache, I., Brixen, K., Kalschauer, V., Illum, N., Rasmussen, K., Larsen, L.A., Tommerup, N.

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Eponymous Jacobsen syndrome: Mapping the breakpoints of the original family suggests an association between the distal 1.1 Mb of chromosome 21 and osteoporosis in Down syndrome (Am... von Tümer, Z., Henriksen, A.M., Bache, I., Brixen, K., Kalscheuer, V., Illum, N., Rasmussen, K., Larsen, L.A., Tommerup, N.

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Intravenous Immunoglobulin: A Single-Blind Trial in Children with Lennox-Gastaut Syndrome von Illum, N., Taudorf, Karen, Heilmann, C., Smith, T., Wulff, K., Mansa, B., Platz, P.

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Phenotypical and Functional Characterization of Double‐Negative (CD4‐CD8‐) αβ T‐Cell Receptor Positive Cells from an Immunodeficient Patient von ILLUM, N., RALFKIAER, E., PALLESEN, G., GEISLERt, C.

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Concurrent uveoretinitis and pineocytoma in a child suggests a causal relationship von Illum, N, Korf, H W, Julian, K, Rasmussen, T, Herning, M, Krabbe, S

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P160 – 1672 Assessing children with disabilities: WHO ICF-CY classification and Rasch analysis von Illum, NO, Gradel, KO, Laulund, LW, Bergstein, KR, Szomlaiski, N, Johansen, MN

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Eosinophilic cellulitis: five cases von LINDSKOV, R, ILLUM, N, WEISMANN, K, THOMSEN, O. F

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Interferon-alfa treatment of facial infantile haemangiomas: with emphasis on the sight-threatening varieties. A clinical series von Fledelius, H C, Illum, N, Jensen, H, Prause, J U

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Human red cell Aquaporin CHIP. II. Expression during normal fetal development and in a novel form of congenital dyserythropoietic anemia von Agre, P, Smith, B L, Baumgarten, R, Preston, G M, Pressman, E, Wilson, P, Illum, N, Anstee, D J, Lande, M B, Zeidel, M L

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Interferon‐alfa treatment of facial infantile haemangiomas von Fledelius, H. C., Illum, N., Jensen, H., Prause, J. U.

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Lethal Autosomal Recessive Arthrogryposis Multiplex Congenita with Whistling Face and Calcifications of the Nervous System von Illum, N., Reske-Nielsen, Edith, Skovby, F., Askjær, S. A., Bernsen, Alice

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A Novel Form of Congenital Dyserythropoietic Anemia Associated With Deficiency of Erythroid CD44 and a Unique Blood Group Phenotype [In(a-b-), Co(a-b-)] von Parsons, Stephen F., Jones, Jeff, Anstee, David J., Judson, Philip A., Gardner, Brigitte, Wiener, Edith, Poole, Joyce, Ilium, Niels, Wickramasinghe, Sunitha N.

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107 Continuous intrathecal baclofen for treatment of spasticity and dystonia von Illum, N., Juul Hansen, F., Uldall, P., Amtoft Nielsen, O.

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Phenotypical and functional characterization of double-negative (CD4-CD8-) alpha beta T-cell receptor positive cells from an immunodeficient patient von Illum, N, Ralfkiaer, E, Pallesen, G, Geisler, C

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A novel form of congenital dyserythropoietic anemia associated with deficiency of erythroid CD44 and a unique blood group phenotype [In(a-b- ), Co(a-b-)] von Parsons, SF, Jones, J, Anstee, DJ, Judson, PA, Gardner, B, Wiener, E, Poole, J, Illum, N, Wickramasinghe, SN

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A novel form of congeintal dyserythropoietic anemia associated with deficiency of erythroid CD44 and a unique blood group phenotype [In(a-b-), Co(a-b-)] von PARSONS, S. F, JONES, J, ANSTEE, D. J, JUDSON, P. A, GARDNER, B, WIENER, E, POOLE, J, ILLUM, N, WICKRAMASINGHE, S. N

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Phenotypical and functional characterization of double-negative (CD4 super(-)CD8 super(-)) alpha beta T-cell receptor positive cells from an immunodeficient patient von Illum, N, Ralfkiaer, E, Pallesen, G, Geisler, C

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