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EE196 Real World Evidence on the Burden of Disease for Patients and Their Nearest Relatives - the Case of Duchenne Muscular Dystrophy

Value in health, 2023-12, Vol.26 (12), p.S89

2023

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G.P.19.07 Gene and protein expression of muscle specific genes in children

Neuromuscular disorders : NMD, 2007, Vol.17 (9), p.895-896

2007

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Muscular response to the first three months of deflazacort treatment in boys with Duchenne muscular dystrophy

Journal of musculoskeletal & neuronal interactions, 2017-06, Vol.17 (2), p.8-18

2017

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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

American journal of medical genetics. Part A, 2005-06, Vol.135A (3), p.339-341

2005

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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 J Med Genet 135A:339-341)

American journal of medical genetics. Part A, 2006-03, Vol.140A (6), p.663-663

2006

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Intravenous immunoglobulin: a single-blind trial in children with Lennox-Gastaut syndrome

Neuropediatrics, 1990-05, Vol.21 (2), p.87-90

1990

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Ulcerated haemangioma successfully treated with interferon alfa-2b and topical granulocyte-macrophage colony-stimulating factor

Dermatology (Basel), 1995, Vol.191 (4), p.315-317

1995

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Phenotypical and Functional Characterization of Double‐Negative (CD4‐CD8‐) αβ T‐Cell Receptor Positive Cells from an Immunodeficient Patient

Scandinavian journal of immunology, 1991-11, Vol.34 (5), p.635-645

1991

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Congenital dyserythropoietic anaemia with novel intra‐erythroblastic and intra‐erythrocytic inclusions

British journal of haematology, 1991-10, Vol.79 (2), p.322-330

1991

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Concurrent uveoretinitis and pineocytoma in a child suggests a causal relationship

British journal of ophthalmology, 1992-09, Vol.76 (9), p.574-576

1992

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P160 – 1672 Assessing children with disabilities: WHO ICF-CY classification and Rasch analysis

European journal of paediatric neurology, 2013-09, Vol.17, p.S97-S97

2013

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Bisphosphonate treatment of children and adolescents

Ugeskrift for læger, 2003-01, Vol.165 (5), p.454

Illum, Niels O

2003

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Eosinophilic cellulitis: five cases

Acta dermato-venereologica, 1988, Vol.68 (4), p.325-330

1988

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Rhizotomy for children with severe spastic cerebral palsy

Ugeskrift for læger, 2006-02, Vol.168 (8), p.785

2006

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Interferon-alfa treatment of facial infantile haemangiomas: with emphasis on the sight-threatening varieties. A clinical series

Acta ophthalmologica Scandinavica, 2001-08, Vol.79 (4), p.370-373

2001

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Human red cell Aquaporin CHIP. II. Expression during normal fetal development and in a novel form of congenital dyserythropoietic anemia

The Journal of clinical investigation, 1994-09, Vol.94 (3), p.1050-1058

1994

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Erythropoiesis and use of hematopoietic growth factors in children

Ugeskrift for læger, 1996-07, Vol.158 (29), p.4171

Illum, N O

1996

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PRIMARY HYPERPARATHYROIDISM IN INFANCY ASSOCIATED WITH FAMILIAL HYPOCALCIURIC HYPERCALCEMIA

Acta Paediatrica, 1983-07, Vol.72 (4), p.625-629

1983

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Interferon‐alfa treatment of facial infantile haemangiomas

Acta ophthalmologica Scandinavica, 2001-08, Vol.79 (4), p.370-373

2001

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Lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system

Neuropediatrics, 1988-11, Vol.19 (4), p.186-192

1988

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Diagnosis of pyruvate kinase deficiency

Ugeskrift for læger, 1995-04, Vol.157 (15), p.2160

Illum, N O

1995

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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-)]

Blood, 1994-02, Vol.83 (3), p.860-868

1994

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Primary hyperoxaluria type 1: clinical manifestations in infancy and prenatal diagnosis

Child nephrology and urology, 1992, Vol.12 (4), p.225

1992

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107 Continuous intrathecal baclofen for treatment of spasticity and dystonia

European journal of paediatric neurology, 1999, Vol.3 (6), p.A147-A148

1999

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Hypercalcemia in early childhood associated with cardiovascular abnormalities

Ugeskrift for læger, 1986-11, Vol.148 (47), p.3121

Illum, N

1986

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EE196 Real World Evidence on the Burden of Disease for Patients and Their Nearest Relatives - the Case of Duchenne Muscular Dystrophy

G.P.19.07 Gene and protein expression of muscle specific genes in children

Muscular response to the first three months of deflazacort treatment in boys with Duchenne muscular dystrophy

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

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 J Med Genet 135A:339-341)

Intravenous immunoglobulin: a single-blind trial in children with Lennox-Gastaut syndrome

Ulcerated haemangioma successfully treated with interferon alfa-2b and topical granulocyte-macrophage colony-stimulating factor

Phenotypical and Functional Characterization of Double‐Negative (CD4‐CD8‐) αβ T‐Cell Receptor Positive Cells from an Immunodeficient Patient

Congenital dyserythropoietic anaemia with novel intra‐erythroblastic and intra‐erythrocytic inclusions

Concurrent uveoretinitis and pineocytoma in a child suggests a causal relationship

P160 – 1672 Assessing children with disabilities: WHO ICF-CY classification and Rasch analysis

Bisphosphonate treatment of children and adolescents

Eosinophilic cellulitis: five cases

Rhizotomy for children with severe spastic cerebral palsy

Interferon-alfa treatment of facial infantile haemangiomas: with emphasis on the sight-threatening varieties. A clinical series

Human red cell Aquaporin CHIP. II. Expression during normal fetal development and in a novel form of congenital dyserythropoietic anemia

Erythropoiesis and use of hematopoietic growth factors in children

PRIMARY HYPERPARATHYROIDISM IN INFANCY ASSOCIATED WITH FAMILIAL HYPOCALCIURIC HYPERCALCEMIA

Interferon‐alfa treatment of facial infantile haemangiomas

Lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system

Diagnosis of pyruvate kinase deficiency

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-)]

Primary hyperoxaluria type 1: clinical manifestations in infancy and prenatal diagnosis

107 Continuous intrathecal baclofen for treatment of spasticity and dystonia

Hypercalcemia in early childhood associated with cardiovascular abnormalities

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