about
Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferaseReactive haemophagocytic syndrome in children with inflammatory disorders. A retrospective study of 24 patientsA survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutationNeonatal hemolytic anemia due to inherited harderoporphyria: clinical characteristics and molecular basisFAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of functionInternational and multidisciplinary expert recommendations for the use of biologics in systemic lupus erythematosus.[Exploration of hemostasis disorders in children (excluding the neonatal period)]Misdiagnosis of chronic thrombocytopenia in childhood.[Evans' syndrome: a retrospective study from the ship (French Society of Pediatric Hematology and Immunology) (36 cases)]Rituximab therapy for childhood Evans syndrome.Macrophage activation syndrome in juvenile systemic lupus erythematosus: a multinational multicenter study of thirty-eight patients.Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.Thrombotic microangiopathy and Purtscher-like retinopathy as a rare presentation of juvenile dermatomyositis.Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive SurveyChildhood-onset autoimmune cytopenia as the presenting feature of biallelic ACP5 mutations.The compartmentalisation of phosphorylated free oligosaccharides in cells from a CDG Ig patient reveals a novel ER-to-cytosol translocation processPaediatric Castleman disease: report of seven cases and review of the literature.Long-term evaluation of the beneficial effect of subtotal splenectomy for management of hereditary spherocytosis.Safety, effectiveness, and pharmacokinetics of adalimumab in children with polyarticular juvenile idiopathic arthritis aged 2 to 4 years.Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig.Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry.Infantile pyknocytosis: a cause of haemolytic anaemia of the newborn.Pharmacokinetics of mycophenolate mofetil in children with lupus and clinical findings in favour of therapeutic drug monitoringA gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34.Occurrence of inflammatory bowel disease during treatment of juvenile idiopathic arthritis with etanercept: a French retrospective study.A phase II, multicenter, open-label study evaluating dosing and preliminary safety and efficacy of canakinumab in systemic juvenile idiopathic arthritis with active systemic features.Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).New insights into childhood autoimmune hemolytic anemia: a French national observational study of 265 childrenAnakinra pharmacokinetics in children and adolescents with systemic-onset juvenile idiopathic arthritis and autoinflammatory syndromes.Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestationsAnti-HMGCR autoantibodies in European patients with autoimmune necrotizing myopathies: inconstant exposure to statinBlau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes.Abdominal manifestations in childhood-onset systemic lupus erythematosus.Biological treatment in systemic juvenile idiopathic arthritis: achievement of inactive disease or clinical remission on a first, second or third biological agent.Excellent prognosis of late relapses of ETV6/RUNX1-positive childhood acute lymphoblastic leukemia: lessons from the FRALLE 93 protocolUnusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthoodAutosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national surveyBand 3 Courcouronnes (Ser667Phe): a trafficking mutant differentially rescued by wild-type band 3 and glycophorin A.Effect of transfusion therapy on cerebral vasculopathy in children with sickle-cell anemia.Consensus-based recommendations for the management of juvenile dermatomyositis.
P50
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P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Brigitte Bader-Meunier
@ast
Brigitte Bader-Meunier
@en
Brigitte Bader-Meunier
@es
Brigitte Bader-Meunier
@nl
type
label
Brigitte Bader-Meunier
@ast
Brigitte Bader-Meunier
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Brigitte Bader-Meunier
@es
Brigitte Bader-Meunier
@nl
prefLabel
Brigitte Bader-Meunier
@ast
Brigitte Bader-Meunier
@en
Brigitte Bader-Meunier
@es
Brigitte Bader-Meunier
@nl
P106
P21
P31
P496
0000-0001-8476-8196