List of works - Bertil Glader

A novel pathogenic mutation in RPL11 identified in a patient diagnosed with diamond Blackfan anemia as a young adult

scientific article published on 17 August 2016

AAV-mediated factor IX gene transfer to skeletal muscle in patients with severe hemophilia B.

scientific article

Addressing the diagnostic gaps in pyruvate kinase (PK) deficiency: Consensus recommendations on the diagnosis of PK deficiency

scientific article published on 28 November 2018

Adenovirus-associated virus vector-mediated gene transfer in hemophilia B

scientific article published on 10 December 2011

Anti-Mur as the most likely cause of mild hemolytic disease of the newborn

scientific article published on 20 March 2016

Approach to the bleeding child

scientific article

Clinical outcomes of splenectomy in children: report of the splenectomy in congenital hemolytic anemia registry

scientific article

Cold agglutinin syndrome in pediatric liver transplant recipients

scientific article published in December 2007

Development of antibodies to human thrombin and factor V in a pediatric patient exposed to topical bovine thrombin

scientific article published on December 1, 2010

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

scientific article published on 30 July 2008

Diagnosis of Pyruvate Kinase Deficiency

scientific article

Diamond Blackfan anemia is mediated by hyperactive Nemo-like kinase

scientific article published on 03 July 2020

Erythrocyte adenosine deaminase levels are elevated in Diamond Blackfan anemia but not in the 5q- syndrome

scientific article published on 24 August 2016

Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia

scientific article published on 17 December 2012

Erythrocyte pyruvate kinase deficiency: 2015 status report

scientific article

Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia

scientific article

Functional characterization and modified rescue of novel AE1 mutation R730C associated with overhydrated cation leak stomatocytosis ⬇️

scientific article published on January 5, 2011

Hb Adana (HBA2 or HBA1: c.179G > A) and alpha thalassemia: Genotype-phenotype correlation

scientific article published on 11 May 2018

Hematologic outcomes after total splenectomy and partial splenectomy for congenital hemolytic anemia

scientific article published on 23 October 2015

Immune thrombocytopenia in children less than 1 year of age: a single-institution 10-year experience

scientific article

In memoriam: Bernard G. Forget

scientific article published on 13 April 2016

Increased Prevalence of Congenital Heart Disease in Children With Diamond Blackfan Anemia Suggests Unrecognized Diamond Blackfan Anemia as a Cause of Congenital Heart Disease in the General Population: A Report of the Diamond Blackfan Anemia Registr

scientific article published on 01 May 2018

Loss of Forkhead box M1 promotes erythropoiesis through increased proliferation of erythroid progenitors

scientific article

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.

scientific article published on 11 March 2013

Neonatal hemolysis

Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia

scientific article published on 30 June 2013

Novel protocol including liver biopsy to identify and treat CD8+ T-cell predominant acute hepatitis and liver failure

scientific article published on 14 June 2014

One year follow-up of children and adolescents with chronic immune thrombocytopenic purpura (ITP) treated with rituximab

scientific article

Point-of-Care Quantitative Measure of Glucose-6-Phosphate Dehydrogenase Enzyme Deficiency

scientific article

Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study

scientific article published on 13 September 2018

Prospective phase 1/2 study of rituximab in childhood and adolescent chronic immune thrombocytopenic purpura

scientific article

Red Blood Cell Enzyme Disorders.

scientific article

Reduced ribosomal protein gene dosage and p53 activation in low-risk myelodysplastic syndrome ⬇️

scientific article published on July 25, 2011

Resolution of severe Donath-Landsteiner autoimmune hemolytic anemia temporally associated with institution of plasmapheresis

scientific article

Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia

article

Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients

scientific article

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia

scientific article

Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia

scientific article

Successful transduction of liver in hemophilia by AAV-Factor IX and limitations imposed by the host immune response

scientific article (publication date: March 2006)

TNF-mediated inflammation represses GATA1 and activates p38 MAP kinase in RPS19-deficient hematopoietic progenitors

scientific article

The Genetic Landscape of Diamond-Blackfan Anemia

scientific article published on 29 November 2018

The Genetic Landscape of Diamond-Blackfan Anemia

The clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study

scientific article published on 16 March 2018

The role of the DNA damage response in zebrafish and cellular models of Diamond Blackfan anemia.

scientific article

List of works by Bertil Glader

A novel pathogenic mutation in RPL11 identified in a patient diagnosed with diamond Blackfan anemia as a young adult

AAV-mediated factor IX gene transfer to skeletal muscle in patients with severe hemophilia B.

Addressing the diagnostic gaps in pyruvate kinase (PK) deficiency: Consensus recommendations on the diagnosis of PK deficiency

Adenovirus-associated virus vector-mediated gene transfer in hemophilia B

Anti-Mur as the most likely cause of mild hemolytic disease of the newborn

Approach to the bleeding child

Clinical outcomes of splenectomy in children: report of the splenectomy in congenital hemolytic anemia registry

Cold agglutinin syndrome in pediatric liver transplant recipients

Development of antibodies to human thrombin and factor V in a pediatric patient exposed to topical bovine thrombin

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

Diagnosis of Pyruvate Kinase Deficiency

Diamond Blackfan anemia is mediated by hyperactive Nemo-like kinase

Erythrocyte adenosine deaminase levels are elevated in Diamond Blackfan anemia but not in the 5q- syndrome

Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia

Erythrocyte pyruvate kinase deficiency: 2015 status report

Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia

Functional characterization and modified rescue of novel AE1 mutation R730C associated with overhydrated cation leak stomatocytosis ⬇️

Hb Adana (HBA2 or HBA1: c.179G > A) and alpha thalassemia: Genotype-phenotype correlation

Hematologic outcomes after total splenectomy and partial splenectomy for congenital hemolytic anemia

Immune thrombocytopenia in children less than 1 year of age: a single-institution 10-year experience

In memoriam: Bernard G. Forget

Increased Prevalence of Congenital Heart Disease in Children With Diamond Blackfan Anemia Suggests Unrecognized Diamond Blackfan Anemia as a Cause of Congenital Heart Disease in the General Population: A Report of the Diamond Blackfan Anemia Registr

Loss of Forkhead box M1 promotes erythropoiesis through increased proliferation of erythroid progenitors

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.

Neonatal hemolysis

Neonatal hemolysis

Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia

Novel protocol including liver biopsy to identify and treat CD8+ T-cell predominant acute hepatitis and liver failure

One year follow-up of children and adolescents with chronic immune thrombocytopenic purpura (ITP) treated with rituximab

Point-of-Care Quantitative Measure of Glucose-6-Phosphate Dehydrogenase Enzyme Deficiency

Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study

Prospective phase 1/2 study of rituximab in childhood and adolescent chronic immune thrombocytopenic purpura

Red Blood Cell Enzyme Disorders.

Reduced ribosomal protein gene dosage and p53 activation in low-risk myelodysplastic syndrome ⬇️

Resolution of severe Donath-Landsteiner autoimmune hemolytic anemia temporally associated with institution of plasmapheresis

Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia

Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia

Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia

Successful transduction of liver in hemophilia by AAV-Factor IX and limitations imposed by the host immune response

TNF-mediated inflammation represses GATA1 and activates p38 MAP kinase in RPS19-deficient hematopoietic progenitors

The Genetic Landscape of Diamond-Blackfan Anemia

The Genetic Landscape of Diamond-Blackfan Anemia

The Genetic Landscape of Diamond-Blackfan Anemia

The clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study

The role of the DNA damage response in zebrafish and cellular models of Diamond Blackfan anemia.