Results 221 to 230 of about 182,656 (351)

International Guideline on the Diagnosis and Management of Pediatric Patients With Hereditary Angioedema

open access: yesAllergy, EarlyView.
ABSTRACT Hereditary angioedema (HAE) with C1 inhibitor deficiency is a rare disease characterized by unpredictable episodes of tissue swelling (angioedema), which, in most cases, occur first under the age of 18 years, and entail a significant burden of disease not only for the patients but also for their families.
Henriette Farkas   +128 more
wiley   +1 more source

Genetic Spectrum and Phenotypic Variability in Chinese Patients with Multisystem Proteinopathy and Related Disorders. [PDF]

open access: yesDegener Neurol Neuromuscul Dis
Xia X   +8 more
europepmc   +1 more source

Positive Malignant Hyperthermia Susceptibility In Vitro  Test in a Patient with Mitochondrial Myopathy and Myoadenylate Deaminase Deficiency [PDF]

open access: bronze, 2002
Ruth Fricker   +6 more
openalex   +1 more source

Comparative study of blood biochemistry in clinically healthy farmed barramundi (Lates calcarifer) and rainbow trout (Oncorhynchus mykiss) from freshwater recirculating aquaculture systems

open access: yesAustralian Veterinary Journal, EarlyView.
Barramundi (Lates calcarifer) is an economically significant aquaculture species and ranks among Australia's top five farmed finfish. As global production intensifies, understanding the physiology and health of barramundi is essential to support animal welfare and industry profitability.
CY(V) Pang, N Courtman, F Samsing
wiley   +1 more source

A muscular dystrophy associated with bi‐allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies

open access: yesBrain Pathology, EarlyView.
Proteomics‐guided exome re‐analysis identifies bi‐allelic variants in the nuclear envelope LEMD2 gene, expanding its phenotypic spectrum. Created in BioRender. Pauper, M. (2026) https://BioRender.com/xamvo92.
Marc Pauper   +17 more
wiley   +1 more source

Novel drugs approved by the EMA, the FDA and the MHRA in 2025: A year in review

open access: yesBritish Journal of Pharmacology, EarlyView.
Abstract In the 2025 novel drug mini‐review, one can take a full measure of the ingenuity that underlies current drug design and development, despite the year's smaller harvest (46 novel drugs) compared to 2024 (53) and 2023 (70). 54% of the novel drugs are first‐in‐class (FIC).
Andreas Papapetropoulos   +16 more
wiley   +1 more source

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