Results 101 to 110 of about 4,553,133 (313)
Chronic pain and fatigue in multiple osteochondroma and Ollier disease, a systematic review
BMC Musculoskeletal DisordersIntroduction Multiple osteochondromas (MO) and Ollier disease are characterized by multiple tumours in the skeletal bones. They lead to bone deformity, restricted joint motion, interference with skeletal growth and increased risk of malignant ...
Ariane Kwiet +2 more
doaj +1 more source
Lost in the Vaso‐Occlusion: A Patient's Abdominal Pain Returns With a Vengeance
Pediatric Blood &Cancer, EarlyView.
Dunia Hatabah +5 more
wiley +1 more source
Emerging experimental and computational methods for studying redox‐regulated structural transitions
FEBS Letters, EarlyView.Redox reactions can reshape proteins and alter how they behave in cells, with important consequences for health and disease. This review explores emerging experimental and computational approaches for discovering these redox‐sensitive protein switches, revealing their structural effects, and predicting their behavior, opening new opportunities to ...
Tasneem Rass +2 more
wiley +1 more source
Can a regulatory instrument promote research and development into neglected diseases? A Policy Delphi Survey [PDF]
, 2012 Fehr A. Can a regulatory instrument promote research and development into neglected diseases? A Policy Delphi Survey. Bielefeld: University of Bielefeld; 2012.Background Rare diseases and neglected diseases are characterized by deficits in drug research ...
Fehr, Angela
core
, 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
Synergistic perspectives—How single‐molecule biophysics complement biochemical understanding
FEBS Letters, EarlyView.In this review, we discuss how ensemble biochemistry and single‐molecule approaches are complementary, outline commonly used single‐molecule techniques, and illustrate their relevance through two representative case studies: chromatin organization by SMC complexes and pathway choice during DNA double‐strand break repair.
Sara De Bragança +2 more
wiley +1 more source
A Rare Complication of a Rare Disease [PDF]
Gastroenterology, 2019 Luke J. Nayak +2 more
openaire +2 more sources
Rare disease, rare information
Proceedings of the ALISE Annual Conference, 2022 This study aimed to uncover the types of daily healthcare information provided by hospitals to family caregivers of individuals with rare diseases and determine whether the information provided met the family caregivers’ information needs to improve digital information access and use by family caregivers.
openaire +2 more sources
Translophagy—A potential link between autophagy impairment and translational errors
FEBS Letters, EarlyView.Neurodegenerative diseases are characterised by the accumulation of abnormal proteins and protein aggregates, but their origin often remains unknown. We propose that selective autophagy removes damaged protein‐making machinery, preventing errors during protein synthesis.
Mykola V. Korolchuk +11 more
wiley +1 more source
Retrospective on Establishing Rare Diseases Medical Service System and Research Platform in China
, 2022 Rare diseases refer to diseases characterized by very low prevalence rate but causing serious public health problem in the society. The diagnosis and treatment of the diseases pose great challenges.During the period of 13th Five-Year, China has ...
ZHANG Shuyang, ZHU Yicheng
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