Background Parents of children with rare conditions increasingly use the Internet to source
information on their child's condition. This study reports on part of a larger study whose …

Background For patients with rare diseases (RD), misdiagnosis (or erroneous diagnosis) is
one of the key issues that hinder RD patients' accessibility to timely treatment. Yet, little is …

language social and behavioral science research into US self-help/mutual aid groups and
nonprofit organizations (eg, Alcoholics Anonymous, Parents Without Partners, or …

Despite over 7000 known rare diseases, reliable information regarding their prevalence,
history and treatment options is scarce. To address this gap, patients, advocates, and …

Background Patient-centered health care for children with inborn errors of metabolism (IEM)
and their families is important and requires an understanding of patient experiences, needs …

Introduction: Progress in diagnosis and treatment of patients with intoxication-type inborn
errors of metabolism (IT-IEM) such as urea cycle disorders, organic acidurias or maple syrup …

Albinism in Africa: Historical, Geographic, Medical, Genetic, and Psychosocial Aspects
provides the first in-depth reference for understanding and treating patients of human …

Perpetual debate regarding the delicate balance between access and innovation and the
protection of the public health and safety dominate discussions of the United States Food …

Pathogenic/likely pathogenic variants (PLPV) in CDH1 are associated with a significantly
increased lifetime risk for diffuse gastric cancer, with an average age of onset of 47 years …

Aim The aim of this research was to explore clinicians' experiences of parents' online health
information seeking (OHIS) behaviour about selective dorsal rhizotomy for the management …