Results 51 to 60 of about 13,095,395 (361)
European expert network on rare communicable diseases and other rare diseases linked to mobility and globalisation focused on health care provision (EURaDMoG) : a feasibility study [PDF]
, 2020 Introduction: In the current mobility and globalization context, there is a growing need to identify potential changes on the pattern of diseases in the European Union (EU)/European Economic Area (EEA) and provide accurate diagnosis and treatment for the
Gascon, Joaquim +9 more
core +1 more source
Current Status of Drug Development and Implementation for Diseases Included in the Second Catalog of Rare Diseases [PDF]
, 2023 The National Health Commission of the People′s Republic of China and six other departments jointly released the Second Catalog of Rare Diseases, which expanded the definition of rare diseases in China. The expansion of the catalog means greater attention
LI Linkang +4 more
core +1 more source
Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry
Orphanet Journal of Rare Diseases, 2020 Background Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disease with autosomal dominant inheritance. Disease-causing variants in endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1) genes are detected in more than 90% of cases ...
Rosario Sánchez-Martínez +12 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2022 Background CLN8-Batten disease (CLN8 disease) is a rare neurodegenerative disorder characterized phenotypically by progressive deterioration of motor and cognitive abilities, visual symptoms, epileptic seizures, and premature death.
Andrew D. Holmes +6 more
doaj +1 more source
The Transition to Adulthood for Youth Living with Rare Diseases
Children, 2022 More children with rare diseases survive into adulthood. The transition period to adult healthcare presents many challenges for pediatric rare diseases.
Melanie R. Sandquist +3 more
semanticscholar +1 more source
romanian journal of ophthalmology, 2019 Rare ocular pathology has an important impact on the quality of life of patients because often the damage is bilateral and, although asymmetric, causes a significant decrease in visual acuity. Because it may be asymptomatic until a relatively late stage, diagnosis is frequently delayed. A general understanding of the disease pathophysiology, diagnosis,
Elena Angelica, Sburlan +9 more
openaire +2 more sources
Precision Medicine in Rare Diseases [PDF]
, 2020 © 2020 by the authors.Rare diseases are those that have a low prevalence in the population (less than 5 individuals per 10,000 inhabitants). However, infrequent pathologies affect a large number of people, since according to the World Health Organization
Suarez-Rivero, Juan M. +15 more
core +1 more source
Managing rare diseases: examples of national approaches in Europe, North America and East Asia [PDF]
, 2022 Around 4% of the global population suffers from a rare disease. Apart from the medical aspect, economic, organisational, and political approaches remain key aspects when it concerns the evolution of the world of rare diseases.
Cocqueel-Tiran, Florence +6 more
core +1 more source
Generation of a mouse model of Primary Hyperoxaluria Type 1 via CRISPR/Cas9 mediated gene editing
Journal of Biochemical and Clinical Genetics, 2019 Background: Primary Hyperoxaluria Type 1 (PH1) is an inborn error of metabolism caused by mutations in the AGXT gene, which encodes for the hepatocyte-specific enzyme alanine: glyoxylate aminotransferase (AGT).
Kimberly A Coughlan +11 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2022 Fibrodysplasia ossificans progressiva (FOP) is an ultrarare condition and one of the most impactful disorders associated with progressive heterotopic ossification events.
Alessandro Rozim Zorzi +7 more
doaj +1 more source