Search Results - "Pearson, Madeline"
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Enhanced liver fibrosis (ELF) score predicts hepatic decompensation and mortality
Published in JHEP reports (01-06-2024)“…In community pathways for detection of liver disease the most common reason for referral is fibrosis assessment. We investigated the impact of adding the…”
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6070 The increasing cost of biological treatment in paediatric rheumatology
Published in Archives of disease in childhood (01-08-2024)“…ObjectivesThe advance of biological therapies has revolutionised paediatric rheumatology, greatly improving patient outcomes.1 However, these novel treatments…”
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6374 Genotype: phenotype relationships in Myhre syndrome
Published in Archives of disease in childhood (01-08-2024)“…ObjectivesMyhre Syndrome is a complex multi-system disorder that frequently presents in childhood with developmental delay and failure to thrive.1 It is caused…”
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Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort
Published in European journal of human genetics : EJHG (01-06-2024)“…Constitutional loss of SMAD4 function results in Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia Overlap Syndrome (JP-HHT). A retrospective…”
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