ArticleEuropean journal of pediatrics2013
A disease severity scoring system for children with type 1 Gaucher disease.
Article in European journal of pediatrics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 16 citations in OpenAlex.
- Current and emerging pharmacotherapy for Gaucher disease in pediatric populations.Expert opinion on pharmacotherapy · 2021Article
- The N370S/R496H genotype in type 1 Gaucher disease - Natural history and implications for pre symptomatic diagnosis and counseling.Molecular genetics and metabolism reports · 2020Article
- Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement.Insights into imaging · 2019Review
- Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease.Orphanet journal of rare diseases · 2017Article
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledAlmost half of patients with Gaucher disease are diagnosed by the age of 10 years, and approximately two thirds are diagnosed by the age of 20 years. Besides symptomatic children, some presymptomatic children are being diagnosed through community screening programs and because of affected siblings. In addition, it is anticipated that in the near future, newborn screening for lysosomal diseases such as Gaucher disease will be introduced in the USA, identifying additional pre/nonsymptomatic children. Currently, there is no severity scoring system for children. A validated disease severity scoring system in the pediatric Gaucher population will be essential for classifying disease severity in these children, monitoring their disease progression, making decisions about when to treat them, and monitoring disease improvement with therapy. A severity scoring system will also be helpful in comparing therapeutic options as new therapies are designed. Therefore, a Pediatric Gaucher Severity Scoring System (PGS3) was devised using expert opinion and validated in 26 patients with type 1 Gaucher disease. The PGS3 correlates well with disease severity in patients at diagnosis and over time.
conclusionA practical system that will help clinical management, based on signs and symptoms in children with type 1 Gaucher disease, is presented.
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