Cargando…

Dried blood spot metabolomics reveals a metabolic fingerprint with diagnostic potential for Diamond Blackfan Anaemia

The diagnostic evaluation of Diamond Blackfan Anaemia (DBA), an inherited bone marrow failure syndrome characterised by erythroid hypoplasia, is challenging because of a broad phenotypic variability and the lack of functional screening tests. In this study, we explored the potential of untargeted me...

Descripción completa

Detalles Bibliográficos
Autores principales:	van Dooijeweert, Birgit, Broeks, Melissa H., van Beers, Eduard J., Verhoeven‐Duif, Nanda M., van Solinge, Wouter W., Nieuwenhuis, Edward E. S., Jans, Judith J., van Wijk, Richard, Bartels, Marije
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2021
Materias:	Paediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8251760/ https://www.ncbi.nlm.nih.gov/pubmed/33997957 http://dx.doi.org/10.1111/bjh.17524

Ejemplares similares

Untargeted metabolic profiling in dried blood spots identifies disease fingerprint for pyruvate kinase deficiency
por: van Dooijeweert, Birgit, et al.
Publicado: (2020)

Transfusion burden in early childhood plays an important role in iron overload in Diamond‐Blackfan anaemia
por: de Wilde, Jonathan R. A., et al.
Publicado: (2022)

Metabolic Fingerprint in Hereditary Spherocytosis Correlates With Red Blood Cell Characteristics and Clinical Severity
por: van Dooijeweert, Birgit, et al.
Publicado: (2021)

GATA-1 Defects in Diamond–Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease
por: van Dooijeweert, Birgit, et al.
Publicado: (2022)

How I manage children with Diamond‐Blackfan anaemia
por: Bartels, Marije, et al.
Publicado: (2018)

S277: IPSC DISEASE MODELS TO STUDY AND TREAT DIAMOND-BLACKFAN ANEMIA SYNDROME (DBAS)
por: Clark, Chantal, et al.
Publicado: (2023)

Danazol: An Effective and Underutilised Treatment Option in Diamond-Blackfan Anaemia
por: Chai, Kern Y., et al.
Publicado: (2019)

Mid-life extra-haematopoetic manifestations of Diamond–Blackfan anaemia
por: Muir, Christopher, et al.
Publicado: (2017)

Effect of Glucocorticosteroids in Diamond-Blackfan Anaemia: Maybe Not as Elusive as It Seems
por: Macečková, Zuzana, et al.
Publicado: (2022)

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference
por: Vlachos, Adrianna, et al.
Publicado: (2008)

Dyserythropoietic anaemia with an intronic GATA1 splicing mutation in patients suspected to have Diamond‐Blackfan anaemia
por: Kobayashi, Akie, et al.
Publicado: (2022)

The Interplay between Drivers of Erythropoiesis and Iron Homeostasis in Rare Hereditary Anemias: Tipping the Balance
por: Grootendorst, Simon, et al.
Publicado: (2021)

Osteosarcoma Associated With Diamond-Blackfan Anaemia: A Case of a Child Receiving Growth Hormone Therapy
por: Lee, Robert S., et al.
Publicado: (2004)

An update on the pathogenesis and diagnosis of Diamond–Blackfan anemia
por: Da Costa, Lydie, et al.
Publicado: (2018)

Emerging Therapeutic Approaches for Diamond Blackfan Anemia
por: Aspesi, Anna, et al.
Publicado: (2018)

Shock in the Setting of Diamond-Blackfan Anemia Relapse
por: Haddaden, Metri, et al.
Publicado: (2021)

Immunophenotypic Profiling of Erythroid Progenitor-Derived Extracellular Vesicles in Diamond-Blackfan Anaemia: A New Diagnostic Strategy
por: Macrì, Serena, et al.
Publicado: (2015)

High-risk fertility behaviour and childhood anaemia in sub-Saharan Africa
por: Okyere, Joshua, et al.
Publicado: (2022)

Glucocorticoids improve erythroid progenitor maintenance and dampen Trp53 response in a mouse model of Diamond–Blackfan anaemia
por: Sjögren, Sara E., et al.
Publicado: (2015)

Massive iron overload and acute-on-chronic liver failure in a patient with Diamond–Blackfan anaemia: a case report
por: Assis-Mendonça, Guilherme Rossi, et al.
Publicado: (2020)

Altered translation of GATA1 in Diamond-Blackfan anemia
por: Ludwig, Leif S., et al.
Publicado: (2014)

Diamond Blackfan Anemia: Genetics, Pathogenesis, Diagnosis and Treatment
por: Engidaye, Getabalew, et al.
Publicado: (2019)

PSAT224 Endocrine Manifestations in Diamond Blackfan Anemia
por: Shah, Anvay, et al.
Publicado: (2022)

Animal models of Diamond-Blackfan anemia: updates and challenges
por: Liu, Y. Lucy, et al.
Publicado: (2022)

Identifying the critically ill paediatric oncology patient: a study protocol for a prospective observational cohort study for validation of a modified Bedside Paediatric Early Warning System score in hospitalised paediatric oncology patients
por: Soeteman, Marijn, et al.
Publicado: (2021)

Inborn disorders of the malate aspartate shuttle
por: Broeks, Melissa H., et al.
Publicado: (2021)

Barriers in care for children with life-threatening conditions: a qualitative interview study in the Netherlands
por: Brouwer, Marije, et al.
Publicado: (2020)

PB2518: OPTIMIZING THE DETECTION OF 2,3- DIPHOSPHOGLYCERATE IN DRIED BLOOD SPOTS OF PATIENTS WITH SICKLE CELL DISEASE: UNTARGETED METABOLOMICS WITHIN THE GENOMED4ALL PROJECT
por: van der Veen, Sigrid, et al.
Publicado: (2023)

Cross-sectional prospective feasibility study of newborn screening for sickle cell anaemia and congenital hypothyroidism in Guyana
por: Alladin, Bibi Areefa, et al.
Publicado: (2022)

P1424: ONE-YEAR FOLLOW-UP OF A PHASE 2 STUDY OF MITAPIVAT, AN ORAL PYRUVATE KINASE ACTIVATOR, FOR THE TREATMENT OF SICKLE CELL DISEASE
por: van Dijk, Myrthe, et al.
Publicado: (2023)

Oral and Dental Manifestations of Diamond-Blackfan Anemia: Case Reports
por: Ozden, Feyza Otan, et al.
Publicado: (2011)

Progress towards Mechanism-Based Treatment for Diamond-Blackfan Anemia
por: Sjögren, Sara E., et al.
Publicado: (2012)

Clinical and hematologic manifestations in patients with Diamond Blackfan anemia in Korea
por: Kim, Soon-Ki, et al.
Publicado: (2012)

Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia
por: Chae, Hyojin, et al.
Publicado: (2014)

Diamond Blackfan Anemia: a Tertiary Care Center Experience
por: Singh, Avinash Kumar, et al.
Publicado: (2013)

Diamond Blackfan anemia is mediated by hyperactive Nemo-like kinase
por: Wilkes, M. C., et al.
Publicado: (2020)

Value of systematic detection of physical child abuse at emergency rooms: a cross-sectional diagnostic accuracy study
por: Sittig, Judith S, et al.
Publicado: (2016)

Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer
por: Avondo, Federica, et al.
Publicado: (2009)

Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy
por: Aspesi, Anna, et al.
Publicado: (2017)

REducing STEroids in Relapsing Nephrotic syndrome: the RESTERN study— protocol of a national, double-blind, randomised, placebo-controlled, non-inferiority intervention study
por: Schijvens, A M, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_2uthfe69qm2ukm8qmnh16nn6fo