Results 131 to 140 of about 38,143 (313)

Metabolic Control, Quality of Life, and Body Image in Patients with Glycogen Storage Disease Type Ia [PDF]

, 2019
Glycogen storage disease is a group of inborn errors of metabolism, with type Ia being the most common form of the disorder. Glycogen storage disease type Ia (GSDIa) is a multisystemic condition in which individuals have various complications secondary ...
Bream, Alexa
core   +1 more source

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +7 more
wiley   +1 more source

Evaluating the Utility of RNAseq in Prenatal Diagnostics: Expression Profiles of Cultured Chorionic Villus and Amniotic Fluid Samples

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective While RNAseq has enhanced variant interpretation in postnatal cases, its potential in the prenatal setting remains underexplored. This study investigates the utility of RNAseq in prenatal diagnostics by analyzing the expression profiles of cultured chorionic villus samples (cCVS) and amniotic fluid (cAF) samples. Methods We performed
Maria C. Vladoiu, Sen Zhao, Roni Zemet, Christian M. Parobek, Jefferson Cruz Sinson, Stacy Tankersley, Ignatia B. Van den Veyver, Pengfei Liu   +7 more
wiley   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

Biotin Status of Epileptics [PDF]

, 1985
Achuta Murthy P. N., Berlit P., Blass J. P., Bonjour J.-P., Bonjour J.-P., Caspers H., Frigg M., Ghatak N. R., Glaser G. H., Iivanainen M., Johnston D., Krause K.-H., Krause K.-H., Krause K.-H., Meinardi H., Mock D. M., Munoz-Garcia D., Noll F., Patel M. S., Paulsen E. P., Reynolds E. H., Sander J. E., Schmidt D., Scorn D., Selhorst J. B., Sweetman L., Sydenstricker V. P., Thoene J., Vivo D. C., Watanabe T., Wolf B., Woodbury D. M., Woodbury D. M., Woodbury D. M.   +33 more
core   +1 more source

Ultrasound‐based renal growth curves in Chinese children aged 0–14 years

Pediatric Investigation, EarlyView.
Between June 2016 and July 2023, 6033 Chinese children aged 0–14 were recruited from our hospital using renal ultrasound examinations. This study provides comprehensive reference data for renal development in Chinese children aged 0–14 years, highlighting age‐related patterns and strong positive associations with height.
Baohuan Cai, Wei Zhang, Huiming Yi, Liru Qiu, Xiaoping Luo   +4 more
wiley   +1 more source

Newborn screening using tandem mass spectrometry: A systematic review [PDF]

Objectives: To evaluate the evidence for the clinical effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS).
Beverley, C., Chilcott, J., Eastham, J., Paisley, S., Pandor, A.   +4 more
core  

The transformative potential of artificial intelligence in pediatric medicine: Current applications, methodological challenges, and future directions

Pediatric Investigation, EarlyView.
Artificial intelligence (AI) offers transformative potential for paediatric diagnosis and treatment, yet implementation faces unique challenges, including data scarcity, algorithmic bias, and children's developmental physiology. This review examines current applications and charts a path toward transparent, equitable, and trustworthy AI in child health.
Ruisong Wang, Xiaoman Ding, Wanyue Zhang, Tieliu Shi   +3 more
wiley   +1 more source

Audio‐guided exercise at home: Preliminary findings from a pilot study on physical activity for people with low vision

PM&R, EarlyView.
Abstract Background: Individuals with severe visual impairments frequently refrain from regular physical activity due to multiple barriers, including transportation difficulties, financial constraints, and limited availability of exercise programs tailored to their needs. These factors often contribute to a gradual decline in mobility and independence.
Luca Correale, Monica Schmid, Francesco Decortes, Luca Martinis, Giulia Liberali, Luca Bandirali, Gabriella Cusella, Cristina Montomoli   +7 more
wiley   +1 more source

Extrahepatic Gene Editing In Vivo Using Organic Solvent‐Free Lipid Nanoparticles

Small, EarlyView.
This article highlights a novel, organic solvent‐free lipid nanoparticle (LNP) formulation that avoids cholesterol, thereby reducing hepatic accumulation and immune activation. These BLNPs enable potent, flexible, and scalable gene delivery, supporting personalized medicine and diverse nucleic acid applications.
Michael Streiber, Na Liu, Laurianne Simon, Franziska Adermann, Vivien Bachmann, Lucas Gath, Stephanie Hoeppener, Stephanie Schubert, Oliver Werz, Vincent Lapinte, Marie Morille, Michael Bauer, Adrian T. Press, Ulrich S. Schubert, Anja Traeger   +14 more
wiley   +1 more source