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List of works by Albert Catala

Androgen therapy in inherited bone marrow failure syndromes: analysis from the Canadian Inherited Marrow Failure Registry

scientific article published on 03 March 2020

Aplastic Crisis Secondary to Parvovirus B19 Infection as the First Manifestation of an Undiagnosed Hereditary Spherocytosis: Report of a Pediatric Series of Spanish Patients.

scientific article published on 18 November 2015

Chromosome fragility in the buccal epithelium in patients with Fanconi anemia

scientific article published on 10 December 2019

Comparison of horse and rabbit antithymocyte globulin in immunosuppressive therapy for refractory cytopenia of childhood

scientific article published on 25 October 2013

Criteria for evaluating response and outcome in clinical trials for children with juvenile myelomonocytic leukemia

scientific article

Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia

scientific article published on 23 January 2017

ECLIM-SEHOP, a new platform to set up and develop international academic clinical trials for childhood cancer and blood disorders in Spain

scientific article published on 09 October 2019

Epstein-Barr virus infection triggering a haemophagocytic syndrome

scientific article

FLT3 is implicated in cytarabine transport by human equilibrative nucleoside transporter 1 in pediatric acute leukemia.

scientific article published on 06 July 2016

FMS-like tyrosine kinase 3 (FLT3) modulates key enzymes of nucleotide metabolism implicated in cytarabine responsiveness in pediatric acute leukemia

scientific article published on 25 November 2019

Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

article

Hypermethylation of the alternative AWT1 promoter in hematological malignancies is a highly specific marker for acute myeloid leukemias despite high expression levels.

scientific article published on 09 January 2014

Life-threatening secondary hemophagocytic lymphohistiocytosis following vagal nerve stimulator infection in a child with CHD2 myoclonic encephalopathy: a case report

scientific article published on 13 March 2020

Molecular analysis of the novel L243R mutation in STXBP2 reveals impairment of degranulation activity

scientific article published on 21 December 2019

Multiplex real-time PCR for prompt diagnosis of an outbreak of human parainfluenza 3 virus in children with acute leukemia.

scientific article published on 3 July 2013

Novel and atypical splicing mutation in a compound heterozygous UNC13D defect presenting in Familial Hemophagocytic Lymphohistiocytosis triggered by EBV infection

scientific article published on 10 May 2014

Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies

scientific article published on 05 October 2019

Outcomes and infectious etiologies of febrile neutropenia in non-immunocompromised children who present in an emergency department.

scientific article published on 18 June 2016

Paediatric patients with acute leukaemia and KMT2A (MLL) rearrangement show a distinctive expression pattern of histone deacetylases

scientific article published on 05 July 2018

Pandemic influenza A (2009 H1N1) in children with acute lymphoblastic leukaemia.

scientific article

Pediatric paraganglioma: An early manifestation of an adult disease secondary to germline mutations

scientific article published on 01 November 2006

Platelet Dysfunction in Noonan and 22q11.2 Deletion Syndromes in Childhood

scientific article published on 05 March 2020

Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents

scientific article published on 23 December 2015

Prospective surveillance study of blood stream infections associated with central venous access devices (port-type) in children with acute leukemia: an intervention program.

scientific article published on July 2013

RAS-pathway mutation patterns define epigenetic subclasses in juvenile myelomonocytic leukemia.

scientific article published on 19 December 2017

Self-monitoring treatment program with oral vitamin K antagonists in paediatric patients

scientific article published on 10 February 2018

Spuriously low pulse oximetry saturation associated with hemoglobin Sydney in a child and relatives: Identification of this unstable hemoglobin may avoid unnecessary testing and hospital admissions.

scientific article

Successful engraftment of gene-corrected hematopoietic stem cells in non-conditioned patients with Fanconi anemia

scientific article published on 09 September 2019

Successful port-a-cath salvage using linezolid in children with acute leukemia.

scientific article published on 15 June 2013

Syndromic albinism and haemophagocytosis

scientific article published on 18 September 2009

Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency

scientific article published on 18 June 2020

Therapy with low-dose azacitidine for MDS in children and young adults: a retrospective analysis of the EWOG-MDS study group.

scientific article

Very high hypertriglyceridemia induced: is plasmapheresis needed?

scientific article published on 25 May 2011

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