Results 181 to 190 of about 20,779 (267)

Experiences from inborn errors of immunity registry of India: A preliminary report. [PDF]

Indian J Med Res
Yadav RM, Suri D, Singh S, Pandiarajan V, Satheesh C, Ranganath P, Gulati R, Puri RD, Temkar L, Khalkho P, Almas, Rajasekhar L, Raj R, Shukla A, Rawat A, Madkaikar M, NRROID Registry PID Contributors group.   +16 more
europepmc   +1 more source

A Case Series of Sudden Death in Children Aged 12 Months to 4 Years From LPIN1 Deficiency and PPA2 Deficiency in Queensland

Journal of Paediatrics and Child Health, EarlyView.
Sophie Manoy, Sally Smith, Marita Smith, Catherine Atthow, Janette Spicer, Matthew Lynch, Michelle Lipke, Julie A. McEniery, David Coman, Anita Inwood, Jim McGill, Carolyn Bursle   +11 more
wiley   +1 more source

Cerebrospinal Fluid Creatine Kinase as a Biomarker in Dogs With Neurologic Disease: A Multivariate Analysis to Guide Future Directions

Veterinary Clinical Pathology, EarlyView.
ABSTRACT Background Creatine kinase (CK) is typically associated with skeletal muscle injury, but elevated CK in blood or cerebrospinal fluid (CSF) may also be reflective of central nervous system damage. Previous research has therefore explored the role of CK as a biomarker of neurologic disease in veterinary patients.
Taylor A. Hanson, Michael F. Rosser, Benjamin Blair, Graeme M. Doodnaught, Chandler C. Carter, Anne M. Barger, Kari Foss   +6 more
wiley   +1 more source

Global research landscape of inborn errors of immunity: a bibliometric analysis (1991-2025). [PDF]

Orphanet J Rare Dis
Wu Q, Gao J, Yuan Y, Yang H, Fu Q.
europepmc   +1 more source

The Digital Native Paradox: A Framework for Critical Appraisal of Generative AI in Paediatric Medical Education

Journal of Paediatrics and Child Health, EarlyView.
Richard G. McGee
wiley   +1 more source

Spaceborne and spaceborn: Physiological aspects of pregnancy and birth during interplanetary flight

Experimental Physiology, EarlyView.
Abstract Crewed interplanetary return missions that are on the planning horizon will take years, more than enough time for initiation and completion of a pregnancy. Pregnancy is viewed as a sequence of processes – fertilization, blastocyst formation, implantation, gastrulation, placentation, organogenesis, gross morphogenesis, birth and neonatal ...
Arun V. Holden
wiley   +1 more source

Mass Spectrometry-Based Metabolomics in Pediatric Health and Disease. [PDF]

Metabolites
Sahu D, Matusa AM, DiBattista A, Urquhart BL, Fraser DD.   +4 more
europepmc   +1 more source

A multi‐omics investigation of sarcopenia and frailty: Integrating genomic, epigenomic and telomere length data

Experimental Physiology, EarlyView.
Abstract Sarcopenia and frailty are complex geriatric syndromes influenced by a combination of genetic and environmental factors. Recent studies suggest that specific genetic variants, DNA methylation patterns and shortened telomeres are associated with age‐related diseases and might contribute to the development of both sarcopenia and frailty. In this
Valentina Ginevičienė, Erinija Pranckevičienė, Alina Urnikytė, Laura Jurkūnaitė, Kristijona Gutauskaitė, Rūta Dadelienė, Justina Kilaitė, Ieva Eglė Jamontaitė, Asta Mastavičiūtė, Ildus I. Ahmetov, Vidmantas Alekna   +10 more
wiley   +1 more source

Impact of a Transition Clinic on Long-Term Care and Nutritional Management in Patients with Inborn Errors of Metabolism. [PDF]

Nutrients
Díaz-López EJ, Fernández-Pombo A, Hermida-Ameijeiras Á, Gómez-Vázquez E, Rodríguez-Carnero G, Jiménez-López N, Villar-Taibo R, Cantón-Blanco A, Muñoz-Leira V, Sánchez-Pintos P, Couce ML, Olmos MAM.   +11 more
europepmc   +1 more source

Cannabinoid exposure during pregnancy: Cardiorespiratory effects and offspring outcomes

The Journal of Physiology, EarlyView.
Abstract figure legend Prenatal exposure to cannabinoids has been investigated across human and animal studies to understand its impact on physiological development. Evidence suggests that early‐life cannabinoid exposure influence multiple developmental processes, extending beyond neurodevelopmental outcomes to potentially affect placental function ...
Luis Gustavo A. Patrone, Luciane H. Gargaglioni   +1 more
wiley   +1 more source