Concepedia

An observational study of pediatric healthcare burden in Angelman syndrome: results from a real-world study

Nasreen Khan, Raquel Cabo, Wen‐Hann Tan, Regina Tayag, Lynne M. Bird

Orphanet Journal of Rare Diseases · 2019 · 12 citations · 11 references

DOIFull text

Open access

Abstract

The study highlights the significant healthcare burden among individuals with AS. Future studies that estimate cost and caregiver burden associated with AS are needed to assess the lifelong economic impact of AS on families and healthcare system.

References

11

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Charles A. Williams, Arthur L. Beaudet, Jill Clayton‐Smith et al. · American Journal of Medical Genetics Part A · 2006 · 627 citations

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Distinct phenotypes distinguish the molecular classes of Angelman syndrome

Amy C. Lossie · Journal of Medical Genetics · 2001 · 363 citations · Full text

A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations

Jennifer Gentile, Wen‐Hann Tan, Lucia T. Horowitz et al. · Journal of Developmental & Behavioral Pediatrics · 2010 · 165 citations

Angelman syndrome: Mutations influence features in early childhood

Wen‐Hann Tan, Carlos A. Bacino, Steven A. Skinner et al. · American Journal of Medical Genetics Part A · 2010 · 129 citations · Full text

Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects

Monica Castro Varela, Fernando Kok, Paulo Alberto Otto et al. · European Journal of Human Genetics · 2004 · 114 citations · Full text

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