Results 41 to 50 of about 24,478,248 (209)

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Knowing education in Thailand like a global expert organisation: Politics, context and data

British Educational Research Journal, EarlyView.
Abstract Global expert organisations play increasingly significant roles in the way that education is understood and governed internationally, including by influencing the discourses through which education is conceptualised and shaping norms of what counts as success, failure, progress and the most desirable visions for the future.
Steve Puttick, Chris Atkin, Wayne Dyble, Nick Gee, Ami Montgomery, Chawin Pongpajon, Waewalee Waewchimplee   +6 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Risk Prediction for Niemann-Pick Disease

Pediatric Neurology Briefs, 2012
A retrospective chart review of 216 patients with Niemann-Pick disease type C (NP-C) was conducted in 5 centers in Europe including University of Amsterdam and 2 in Australia.
J Gordon Millichap
doaj   +1 more source

Altered gene expression in the liver and small intestine of horses with equine neuroaxonal dystrophy

Equine Veterinary Journal, EarlyView.
Abstract Background Equine neuroaxonal dystrophy/degenerative myeloencephalopathy (eNAD/EDM) is the second most common diagnosis of spinal ataxia in horses in the United States. The disease develops due to a combination of vitamin E deficiency and an unknown genetic risk factor(s), and there currently is no effective treatment.
Stephanie Ryan, Blythe Durbin‐Johnson, Kevin Woolard, Andrew D. Miller, Carrie J. Finno   +4 more
wiley   +1 more source

Clinical observations of late infantile and juvenile forms of Niemann – Pick disease type C

Бюллетень сибирской медицины, 2017
A clinical description and analysis of cases of Niemann – Pick disease type C in two children are presented. The difficulty of the diagnosis is due to the polymorphism of clinical manifestations, variability in the age of manifestation, rarity of the ...
Irina F. Fedoseeva, Tatyana V. Poponnikova, Galina Yu. Galieva, Olga V. Ilyasova   +3 more
doaj   +1 more source

Niemann Pick disease: a rare lysosomal storage disease

Bangabandhu Sheikh Mujib Medical University Journal, 2023
Niemann Pick Disease (NPD) is a rare autosomal recessive lysosomal storage disease characterized by lysosomal lipid storage. The disease is caused by deficiency of enzyme, acid sphingomyelinase (ASM) which leads to accumulation of sphingomyelin & other ...
Gopen Kumar Kundu, Sk Serjina Anwar, Noor A Sabah Liza, Syeda Tabassum Alam, Sanjida Ahmed, Mohammad Arbab Sarker, Meher Nigar Nishi, Sharmina Afrin, Mohammad Abdul Quddus   +8 more
doaj   +1 more source

Explaining Episodes of High Inflation: Demand‐ and Supply‐Side Drivers in Times of Uncertainty

International Journal of Finance &Economics, EarlyView.
ABSTRACT In this paper, we investigate the extent to which uncertainty anticipates episodes of high inflation in 30 economies worldwide. Our analysis accounts for several factors, including inflation expectations, real global economic activity, and supply chain disruptions.
Maria‐Eleni K. Agoraki, Nektarios Aslanidis, Georgios P. Kouretas   +2 more
wiley   +1 more source

Curating the Fetal Genome: Experience of the ClinGen Prenatal Gene Curation Expert Panel (GCEP)

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Expert prenatal focused gene‐disease curation is necessary to accurately inform clinical care in the setting of rapidly expanding prenatal genomic sequencing. Methods An international Prenatal Gene Curation Expert Panel assembled and systematically reviewed genes asserted to be associated with prenatal hydrops, stillbirth, or severe ...
Stephanie N. Galloway, Jessica L. Giordano, Carrie Shawber, Natalie Chandler, Lauren Westerfield, Prenatal GCEP Panel members, Ronald J. Wapner, Wendy Chung, Ignatia B. Van den Veyver, Shagun Aggarwal, Caitlin Baptiste, Brenna Boyd, Amanda Buchanan, Alicia Byrne, Imen Chakchouk, David Chitayat, Lyn Chitty, Pinal Dalwadi, Avinash Dharmadhikari, Lilian Downie, Stephanie Dukhovny, Mythily Ganapathi, Kelly Gilmore, Elena Greenfeld, Lylach Haizler‐Cohen, Vaidehi Jobanputra, Gabrielle Litteken, Hannah Perrin, Julie Ratliff, Rebecca Reimers, Erin Riggs, Teresa Sparks, Samantha Stover, Amanda Thomas‐Wilson, Leandra Tolusso, Neeta Vora, Tsegaselassie Workalemahu, Roni Zemet‐Lazar   +37 more
wiley   +1 more source

Transparency, Sustainable Governance and Digital Accessibility in Municipalities: A Machine Learning Approach

Sustainable Development, EarlyView.
ABSTRACT Achieving the Sustainable Development Goals (SDGs) requires transparent and accountable local governments, yet little is known about the structural drivers of municipal transparency. This study introduces a machine learning approach to predict municipal transparency using the Bidimensional Transparency Index (BTI), which measures both the ...
Ana M. Plata‐Díaz, Elisabeth Zafra‐Gómez, Juan C. Garrido‐Rodríguez, M. Carmen Pérez‐López   +3 more
wiley   +1 more source