Cardiomyopathies in children – inherited heart muscle disease
Sign Up to like & getrecommendations! Published in 2018 at "Progress in Pediatric Cardiology"
DOI: 10.1016/j.ppedcard.2018.09.001
Abstract: Abstract Pediatric cardiomyopathies of genetic origin directly involving the heart muscle – i.e. not related to metabolic causes - are rare, yet serious diseases of the heart with an annual incidence of 1.1 to 1.5… read more here.
Keywords: pediatric cardiomyopathies; heart; cardiomyopathies children; heart muscle ... See more keywords
Neurodevelopmental Outcomes in Children With Inherited Liver Disease and Native Liver
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Pediatric Gastroenterology and Nutrition"
DOI: 10.1097/mpg.0000000000003337
Abstract: Supplemental Digital Content is available in the text ABSTRACT Objective: To evaluate neurodevelopmental status among children with inherited cholestatic liver diseases with native liver and variables predictive of impairment. Methods: Participants with Alagille syndrome (ALGS),… read more here.
Keywords: algs; liver; children inherited; liver disease ... See more keywords
Families’ healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Open"
DOI: 10.1136/bmjopen-2021-055664
Abstract: Introduction Children with inherited metabolic diseases (IMDs) often have complex and intensive healthcare needs and their families face challenges in receiving high-quality, family centred health services. Improvement in care requires complex interventions involving multiple components… read more here.
Keywords: healthcare experiences; children inherited; care; quantitative data ... See more keywords
“CHildren with Inherited Platelet disorders Surveillance” (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP)
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.967417
Abstract: Abstract Background Inherited thrombocytopenias (ITs) are rare congenital bleeding disorders characterized by different clinical expression and variable prognosis. ITs are poorly known by clinicians and often misdiagnosed with most common forms of thrombocytopenia. Material and… read more here.
Keywords: oncology; children inherited; inherited platelet; hematology ... See more keywords