Rare diseases in Chile: challenges and recommendations in universal health coverage context

The burden of rare diseases

(2019) Carlos R. Ferreira   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

(2019) Stéphanie Nguengang Wakap et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Economic Modeling Considerations for Rare Diseases

(2018) Isobel Pearson et al.   VALUE IN HEALTH

Genetics and genomic medicine in Argentina

(2018) Sebastián A. Vishnopolska et al.   Molecular Genetics & Genomic Medicine

Recommendations from the European Working Group for Value Assessment and Funding Processes in Rare Diseases (ORPH-VAL)

(2017) Lieven Annemans et al.   Orphanet Journal of Rare Diseases

Declaración de la Academia Chilena de Medicina sobre el Título V de la Ley 20.850 (Ley Ricarte Soto) y su proyecto de reglamento “De los ensayos clínicos de productos farmacéuticos y elementos de uso médico”

(2017) Gloria López S et al.   REVISTA MEDICA DE CHILE

Identification of Modifier Genes in a Mouse Model of Gaucher Disease

(2016) Andrés D. Klein et al.   Cell Reports

Economic evaluation in the context of rare diseases: is it possible?

(2015) Everton Nunes da Silva et al.   Cadernos de Saude Publica

Socio-economic burden of rare diseases: A systematic review of cost of illness evidence

(2015) Aris Angelis et al.   HEALTH POLICY

Exploring the Genetic Counselor’s Role in Facilitating Meaning-Making: Rare Disease Diagnoses

(2015) Benjamin M. Helm   Journal of Genetic Counseling

Global implementation of genomic medicine: We are not alone

(2015) Teri A. Manolio et al.   Science Translational Medicine

Genetics and Genomic Medicine in Colombia

(2015) Mauricio De Castro et al.   Molecular Genetics & Genomic Medicine

Monitoring and Evaluating Progress towards Universal Health Coverage in Chile

(2014) Ximena Aguilera et al.   PLOS MEDICINE

Medical Genetics and Genetic Counseling in Chile

(2013) Sonia B. Margarit et al.   Journal of Genetic Counseling

Clinical features of chromosome 22q11.2 microdeletion syndrome in 208 Chilean patients

(2009) GM Repetto et al.   CLINICAL GENETICS

Public participation in health care priority setting: A scoping review

(2009) Craig Mitton et al.   HEALTH POLICY

Severity of illness and priority setting in healthcare: A review of the literature

(2009) Koonal K. Shah   HEALTH POLICY