Results 211 to 220 of about 305,395 (350)

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson   +3 more
wiley   +1 more source

Ruthenium Complexes in Protein Science: Heading a New Generation of Therapeutic and Analytical Tools

open access: yesAngewandte Chemie, EarlyView.
This review presents the latest advances in the development of ruthenium complexes within the field of protein science, highlighting their potential applications in biomedical and bioanalytical fields. Abstract Ruthenium complexes are distinguished by their versatile coordination chemistry, redox behaviors and photochemical properties. In recent years,
Liyan Zhang, Yun Chen, Sylvestre Bonnet
wiley   +2 more sources

Targeted Medical Therapies for Vascular Anomalies: A Clinical Review

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Vascular anomalies represent a broad spectrum of disorders characterized by aberrant blood or lymphatic vessel development, which can lead to complex clinical phenotypes. Historically, vascular anomalies were classified solely on the basis of their clinical and histopathologic features.
Whitney Eng
wiley   +1 more source

Molecular Design and Redox Chemistries for Aqueous Organic Redox Flow Batteries (AORFBs)

open access: yesAngewandte Chemie, EarlyView.
Aqueous organic redox flow batteries (AORFBs) are a promising frontier for sustainable long‐duration energy storage. This review highlights recent advances in redox‐active molecule design, structure‐property relationships, and degradation mechanisms, alongside pairing strategies and full‐cell engineering.
Pan Wang
wiley   +2 more sources

Evaluation of micronutrients in stable COPD patients. [PDF]

open access: yesAsia Pac J Clin Nutr
Onur T   +7 more
europepmc   +1 more source

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