Results 31 to 40 of about 8,730 (170)

Vitamin B12 and Reproductive Health: Clinical Insights, Emerging Mechanistic Understanding, and Nutritional Aspects

Molecular Reproduction and Development, Volume 93, Issue 2, February 2026.
ABSTRACT Epidemiological data from assisted reproductive technologies (ART) link vitamin B12 (VitB12) deficiency to shorter gestation, low birth weight, and reduced live birth rates. VitB12 also plays a critical role in fertility for both sexes by supporting gamete quality.
Aimee Rachel Mathew, Erisa Selita, Chiara Regano, Claudia Bianco, Veronica Corsetti, Virve Cavallucci, Sandra Moreno, Ada Maria Tata, Marco Fidaleo   +8 more
wiley   +1 more source

Relation between homocysteine and biochemical bone turnover markers and bone mineral density in peri- and post-menopausal women [PDF]

, 2017
Background: Recently, increased plasma homocysteine (Hcy) has been suggested as an independent risk factor for osteoporotic fractures. Therefore, it is tempting to speculate that Hcy adversely affects bone metabolism.
Herrmann, Markus, Herrmann, Wolfgang, Kraenzlin, Marius, Pape, Gerhard, Sand-Hill, Marga   +4 more
core  

Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias

Clinical Genetics, Volume 109, Issue 2, Page 211-217, February 2026.
This review demonstrates how amniotic fluid biochemical testing provides critical phenotypic evidence (ACMG PP4) for reclassifying variants of uncertain significance (VUS) in prenatal organic acidurias. Integrating metabolite analysis with genetic testing enhances diagnostic accuracy and enables informed clinical decisions for affected families ...
Kaili Yin, Qingwei Qi
wiley   +1 more source

From Control to Optimisation: Evolving Strategies in the Nutritional Management of Inborn Errors of Protein Metabolism

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Undoubtedly the nutritional management of inborn errors of protein metabolism (IEPM) has improved since the early 1950s, but it is still associated with significant patient burden. The pace of development has not kept up with the increasing demands of the ‘real world’ or development in other areas of medicine. It is essential that research and
Júlio César Rocha, Anne Daly, Anita MacDonald   +2 more
wiley   +1 more source

A Nonketotic Hyperglycinemia Mouse Shows Wide‐Ranging Biochemical Consequences of Elevated Glycine, Reduced Folate One‐Carbon Charging, and Serine Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Nonketotic hyperglycinemia is a severe neonatal epileptic encephalopathy caused by deficient glycine cleavage enzyme activity, for which currently no effective treatment exists. Incomplete understanding of brain biochemistry represents a major knowledge gap to develop new treatments.
Michael A. Swanson, Hua Jiang, Lakshmi Divya Kolora, Rachel Molino, Richard Reisdorph, Cole R. Michel, Katrina A. Doenges, Kit‐Yi Leung, Xiangping Lin, Frank Wong, Samual Lancaster, Basil Michael, Michael Snyder, Daniella H. Hock, David A. Stroud, Tim Wood, Robert Binard, Laura Anderson‐Lehman, Uwe Christians, Erland Arning, Marisa W. Friederich, Roxanne A. Van Hove, Kenneth N. MacLean, Nicholas D. E. Greene, Johan L. K. Van Hove   +24 more
wiley   +1 more source

The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America [PDF]

, 2006
Classical homocystinuria is due to cystathionine beta-synthase (CBS) deficiency. More than 130 mutations, which differ in prevalence and severity, have been described at the CBS gene.
Asteggiano, Carla, Balcells, Susana, Bermudez, Marta, Bernal, Jaime, Briceño, Ignacio, Couce, María Luz, Córdoba, Alfonso, D'Almeida, Vania, Dalmau, Jaime, De Kremer, Raquel Dodelson, Grinberg, Daniel, Grosso, Carola, Martínez-Pardo, Mercedes, Peña-Quintana, Luís, Rodés, Marga, Szlago, Mariana, Urreizti, Roser, Vilarinho, Laura, Vilaseca, Maria Antonia   +18 more
core   +1 more source

Ocular Ultrasound in Clinical Practice: Diagnostic Applications, Pitfalls, and Future Directions

Clinical Neuroimaging, Volume 3, Issue 1, 2026.
ABSTRACT Ocular ultrasound (OUS) has become an essential diagnostic modality, enabling noninvasive imaging of intraocular and orbital structures. OUS is particularly valuable in emergency medicine, ophthalmology, and critical care, facilitating rapid diagnosis of acute vision loss and other systemic diseases. This review covers the ultrasound technique,
Chail Shah, David Brown, Rakesh Shetty Rajalbandi, Parth Upadhyaya   +3 more
wiley   +1 more source

Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: diagnosis in an expanded neonatal screening programme [PDF]

, 2008
The Expanded Newborn Screening Program (MS/MS) in the region of Galicia (NW Spain) was initiated in 2000 and includes the measurement of methionine levels in dried blood spots.
AE ten Hoedt, B Wilcken, D. E. Castiñeiras, E Martins, F. J. Corrales, G Andria, H Tada, HJ Blom, I Perez-Mato, J. M. Fraga, M Ito, M Linnebank, M Nagao, M. D. Bóveda, M. I. Mora, M. L. Couce, ME Chamberlin, ME Chamberlin, ME Chamberlin, NE Braverman, R Surtees, S Hazelwood, S. H. Mudd, SH Mudd, SH Mudd, SH Mudd, SH Mudd, SP Stabler, SZ Kim, T Ubagai, WA Gahl, Y Chien   +31 more
core   +1 more source

Connecting the Dots: Bridging Microsamples and Conventional Blood Matrices in Metabolic Biomarker Analysis

Analytical Science Advances, Volume 6, Issue 2, December 2025.
ABSTRACT Bridging the gap between microsampling techniques and standard blood matrices presents a groundbreaking opportunity in metabolic biomarker analysis, offering minimally invasive, patient‐centric alternatives to traditional venipuncture. This review presents the current knowledge obtained from the comparison of biomarkers analysis in liquid ...
Marlene Thaitumu, Vasiliki Gkanali, Georgios Theodoridis, Helen Gika   +3 more
wiley   +1 more source

Uncovering Hyperhomocysteinemia: Global Risk Patterns and Molecular Disruption in Brain and Vascular Health

Journal of Neurochemistry, Volume 169, Issue 12, December 2025.
Elevated homocysteine results from genetic variants, impaired one‐carbon metabolism, nutritional deficiencies, and metabolic disorders. Hyperhomocysteinemia drives oxidative stress, inflammation, excitotoxicity, and epigenetic disruption, affecting multiple organs and systems.
Osmar Vieira Ramires Júnior, Gustavo Ricardo Krupp Prauchner, Alessandra Schmitt Rieder, Ana Karla Oliveira Leite, Clarissa Penha Farias, Angela T. S. Wyse   +5 more
wiley   +1 more source