Results 81 to 90 of about 41,788 (191)

Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Free sialic acid storage disorder (FSASD) is a lysosomal storage disorder that results from biallelic pathogenic variants in the SLC17A5 gene. This gene codes for sialin, a 12‐transmembrane domain protein that exports the charged sugar N‐acetylneuraminic acid (Neu5Ac; sialic acid) out of the lysosome.
Zoe Wolfenson, Gabriella Grois, Ruth F. Hailemeskel, Marla Sabaii, Laryssa A. Huryn, Wadih M. Zein, Tanya Lehky, Audrey Thurm, Lisa Joseph, Eva H. Baker, Gilbert Vezina, Keith Hyland, Laura Pollard, Ellen Macnamara, Andrea Gropman, May C. Malicdan, William A. Gahl, David R. Adams, Lynne Wolfe   +18 more
wiley   +1 more source

Trends and Patterns of Adverse Drug Reaction Reporting in Sierra Leone: A Retrospective Analysis of VigiFlow Data (2008–2022)

Pharmacoepidemiology and Drug Safety, Volume 35, Issue 3, March 2026.
ABSTRACT Purpose Adverse drug reactions (ADRs) present significant obstacles for healthcare systems, impacting both patient safety and the effectiveness of treatments. Despite this, there is a scarcity of research on ADR reports in Sierra Leone, especially over long periods.
Isatu Jalloh, Onome Thomas Abiri, Peter Bai James, Rajesh Vagiri, Neelaveni Padayachee   +4 more
wiley   +1 more source

Genetic correlations and clinical value of increased renal echogenicity in fetuses identified by prenatal ultrasonography

Precision Medical Sciences, Volume 15, Issue 1, Page 35-41, March 2026.
The corresponding images are as follows: enhanced fetal renal echo, enhanced fetal renal echo complicated with hydronephrosis, cardiac abnormality, chromosome microarray analysis: microdeletion of chromosome 17, whole‐exome sequencing: microdeletion of chromosome 17.
Haihong Liu, Yun Wu, Li Cao, Ting Zhou, LiJun Wu   +4 more
wiley   +1 more source

Integrative chromosome‐scale genome analysis of cupuassu provides insights into witches' broom disease resistance and expands genomic resources for Theobroma

The Plant Genome, Volume 19, Issue 1, March 2026.
Abstract Cupuassu (Theobroma grandiflorum) is a fruit tree native to the Brazilian Amazon and increasingly relevant to regional bioeconomies. Its cultivation is severely affected by witches’ broom disease (WBD), caused by Moniliophthora perniciosa. While a chromosome‐scale genome of the susceptible genotype C1074 is available, the lack of a resistant ...
Vinicius A. C. de Abreu, Rafael Moysés Alves, Mauro de Medeiros Oliveira, Vitor Trinca, Loeni Ludke Falcão, Lucilia Helena Marcellino, Antonio Figueira, Douglas S. Domingues, Alessandro M. Varani   +8 more
wiley   +1 more source

Rubella

Clinics in Dermatology, 1989
S S, Bakshi, L Z, Cooper
openaire   +2 more sources

Who Will Protect the Children?

Annals of the Child Neurology Society, Volume 4, Issue 1, Page 101-102, March 2026.
William D. Graf, Leon G. Epstein
wiley   +1 more source

Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 441-452, March 2026.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70022 This original article is commented on by Scelsa on pages 311–312 of this issue. Abstract Aim To examine the accuracy of prenatal counselling at a multidisciplinary fetal neurology clinic (FNC) that led to termination of pregnancy (TOP), to improve the quality of future ...
Avi Shariv, Michal Gafner, Zvi Leibovitz, Letizia Schreiber, Dvora Kidron, Ayala Arad, Efrat Hadi, Stephanie Libzon, Liat Ben Sira, Maya Goldschmidt Manor, Dorit Lev, Tally Lerman‐Sagie, Liat Gindes   +12 more
wiley   +1 more source

Crystal structure of plant γ‐glutamyl peptidase 1: implications for sulfur metabolism and secondary metabolite biosynthesis

The FEBS Journal, Volume 293, Issue 5, Page 1400-1414, March 2026.
The crystal structures of Arabidopsis thaliana γ‐glutamyl peptidase 1 (GGP1), including the covalent intermediate state, were determined. GGP1 is involved in both glutathione degradation in the primary metabolism and glutathione conjugate processing in the secondary metabolism of glucosinolate and camalexin biosynthesis.
Kosei Sone, Takehiro Ito, Hibiki Sawada, Chihaya Yamada, Toma Kashima, Akimasa Miyanaga, Naoko Ohkama‐Ohtsu, Shinya Fushinobu   +7 more
wiley   +1 more source

Rubella [PDF]

Proceedings of the Royal Society of Medicine, 1908
openaire   +2 more sources

Sex Differences in Response to Viral Vector Vaccines—Implications for Future Vaccine Design

Immunological Reviews, Volume 338, Issue 1, March 2026.
ABSTRACT Vaccination represents one of the most impactful public health achievements, preventing 3.5 to 5 million deaths annually according to estimates of the World Health Organization. Yet, recent outbreaks of emerging and reemerging infectious diseases highlight the need for rapid and strategic vaccine development using vaccine platforms ...
Ilka Grewe, Tamara Zoran, Marylyn Martina Addo   +2 more
wiley   +1 more source