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Advances in Rare Diseases Biomarkers

A rare disease is a health condition with a lower prevalence than common diseases. The World Health Organization defines a rare disease as one that strikes fewer than 65 per 100,000 people. However, their combined effect is significant: around 7,000 rare diseases affect approximately 350 million peo...

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Formato: Online
Lenguaje:inglés
Publicado: MDPI - Multidisciplinary Digital Publishing Institute 2025
Materias:
galectin-3
aminotransferase
calprotectin
urine
primary sclerosing cholangitis
inflammatory bowel disease
inborn errors of metabolism (IEMs)
maple syrup urine disease (MSUD)
genetic testing
newborn screening alloisoleucine
methionine sulfoxide
LysoPI
untargeted metabolomics
liquid chromatography high-resolution mass spectrometry
extracellular vesicles (EVs)
uveal melanoma
aqueous humor (AH)
liquid biopsy
ocular cancer
diagnosis
rare disease
PXE
threshold
PPi
PPi quantification
toll-like receptors (TLRs)
epiretinal membranes (ERMs)
vitreous
complement fragments
extra-cellular matrix (ECM)
innate immunity
inflammation
tissue remodeling
vitreoretinal diseases
progressive supranuclear palsy
microRNAs
biomarkers
atypical parkinsonian disorders
obesity
ciliopathy
biomarker
RASopathies
molecular signatures
precision medicine
personalized diagnostics
gastric cancer
intestinal metaplasia
metabolomics
metabolite profiling
hemophilic arthropathy
biomarkers in hemophilic arthropathy
joint lesions in hemophilia
thema EDItEUR::M Medicine and Nursing
thema EDItEUR::M Medicine and Nursing::MB Medicine: general issues::MBP Health systems and services::MBPK Mental health services
Acceso en línea:ONIX_20250220_9783725824120_262
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