Experiences of Being Heterozygous for Fabry Disease: a Qualitative Study

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

(2015) Benjamin M. Helm   Journal of Genetic Counseling

Quality of life in patients with Fabry disease: a systematic review of the literature

(2015) Maarten Arends et al.   Orphanet Journal of Rare Diseases

Participation in society for people with a rare diagnosis

(2015) Gunilla Jaeger et al.   Disability and Health Journal

Fabry Disease Practice Guidelines: Recommendations of the National Society of Genetic Counselors

(2013) Dawn A. Laney et al.   Journal of Genetic Counseling

Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study

(2013) Takahito Inoue et al.   JOURNAL OF HUMAN GENETICS

Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria

(2012) Thomas P Mechtler et al.   LANCET

Fabry disease

(2010) Dominique P Germain   Orphanet Journal of Rare Diseases

Increased genetic counseling support improves communication of genetic information in families

(2009) Laura E Forrest et al.   GENETICS IN MEDICINE

Disease Rarity, Carrier Status, and Gender: A Triple Disadvantage for Women with Fabry Disease

(2008) Andrea L. Gibas et al.   Journal of Genetic Counseling

Diagnosis of Fabry Disease via Analysis of Family History

(2008) Dawn A. Laney et al.   Journal of Genetic Counseling

Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry

(2007) William R. Wilcox et al.   MOLECULAR GENETICS AND METABOLISM

Do diseases have a prestige hierarchy? A survey among physicians and medical students

(2007) Dag Album et al.   SOCIAL SCIENCE & MEDICINE