Results 241 to 250 of about 370,832 (341)

Current sun-exposure patterns provide inadequate vitamin D in adolescents with seasonal deficiency negatively impacting on bone health [PDF]

open access: green, 2017
Mark D. Farrar   +10 more
openalex  

Vitamin D deficiency and maternal complications

open access: diamond, 2020
Anu Bala Chandel   +3 more
openalex   +2 more sources

A Dual‐Ion Multiphysics Model for Smart and Sustainable Sensors Based on Bacterial Cellulose

open access: yesAdvanced Intelligent Systems, EarlyView.
Bacterial cellulose (BC), functionalized with ionic liquids (ILs) and conductive polymers, offers promise for sustainable sensor applications. To enable real‐world integration, this work presents the first dual‐carrier, multiphysics white‐box model of mechanoelectric transduction in BC–IL sensors, combining mechanical deformation and ion transport ...
Francesca Sapuppo   +7 more
wiley   +1 more source

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

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt   +9 more
wiley   +1 more source

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady   +10 more
wiley   +1 more source

Pathophysiological Role of Vitamin D Deficiency in Down Syndrome: Insights into Metabolic Dysfunction and Sarcopenia. [PDF]

open access: yesInt J Mol Sci
Valle MS   +6 more
europepmc   +1 more source

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