Results 71 to 80 of about 2,017,541 (209)

Disorders of Fatty Acid Oxidation in the Era of Tandem Mass Spectrometry in Newborn Screening

open access: yes, 2008
With recent advances in laboratory technology with tandem mass spectrometry (MS/MS), the number of infants identified with a fatty acid oxidation disorder has increased dramatically.
Banta-Wright, Sandra A.   +2 more
core   +1 more source

Changes in back fat thickness during late gestation predict colostrum yield in sows [PDF]

open access: yes, 2013
Directing protein and energy sources towards lactation is crucial to optimise milk production in sows but how this influences colostrum yield (CY) remains unknown.
Cools, An   +6 more
core   +2 more sources

Progress in RNA‐Targeted Therapeutics for Human Diseases

open access: yesMedComm, Volume 7, Issue 2, February 2026.
RNA‐targeted therapies are revolutionizing molecular medicine by transitioning from a “protein‐centric” focus to an “RNA‐regulatory network” approach. Leveraging RNA's diverse roles in gene regulation, signaling, and epigenetic modifications, advanced platforms such as ASOs, siRNA, miRNA, mRNA, aptamers, shRNA, and CRISPR/Cas systems are enabling ...
Wangzheqi Zhang   +10 more
wiley   +1 more source

Neonatal genetic metabolic disease entities ought to be included in tandem mass spectrometry screening in China

open access: yesZhongguo gonggong weisheng, 2022
Objective To systematically retrieve and sort out the information on neonatal genetic metabolic disease entities included in tandem mass spectrometry (MS/MS) screening in some countries and to provide a reference for entity expansion in the screening on ...
Yi-xiao GONG   +4 more
doaj   +1 more source

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

open access: yesClinical 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

Screening for organic acidurias and aminoacidopathies in high-risk Brazilian patients: Eleven-year experience of a reference center

open access: yesGenetics and Molecular Biology, 2019
Organic acidurias and aminoacidopathies are groups of frequent inborn errors of metabolism (IEMs), which are caused by mutations in specific genes that lead to loss of protein/enzyme or transport function with important deleterious effects to cell ...
Moacir Wajner   +6 more
doaj   +1 more source

Reaction pathways and mechanisms of the electrochemical degradation of phenol on different electrodes [PDF]

open access: yes, 2005
Laboratory experiments were carried out on the kinetics and pathways of the electrochemical (EC) degradation of phenol at three different types of anodes, Ti/SnO2-Sb, Ti/RuO2, and Pt. Although phenol was oxidised by all of the anodes at a current density
Cui, YH   +4 more
core   +1 more source

Ethylene Glycol Poisoning With Oxalate Nephropathy and Acute Kidney Injury: A Case Report and Review of the Literature

open access: yesClinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Ethylene glycol (EG) is a hazardous alcohol present in various household and industrial products. After being metabolized by ethanol dehydrogenase and aldehyde dehydrogenase, it can produce glycolate, acetaldehyde, and oxalate, leading to acute kidney injury.
Zhenjian Xu   +7 more
wiley   +1 more source

Acidose metabólica na infância: por que, quando e como tratá-la? [PDF]

open access: yes, 2007
Objectives: To critically discuss the treatment of metabolic acidosis and the main mechanisms of disease associated with this disorder; and to describe controversial aspects related to the risks and benefits of using sodium bicarbonate and other ...
Andrade, Olberes Vitor Braga de   +2 more
core   +1 more source

Preterm meconium‐stained amniotic fluid: A red flag for infection and adverse perinatal outcomes

open access: yesInternational Journal of Gynecology &Obstetrics, Volume 172, Issue 1, Page 420-427, January 2026.
Abstract Objective Meconium‐stained amniotic fluid (MSAF) is uncommon in preterm deliveries and raises concerns about maternal and neonatal infectious risks. We aimed to evaluate maternal, perinatal, and microbiological outcomes in preterm deliveries complicated by MSAF compared to clear amniotic fluid (AF) and to assess outcomes in preterm versus term
Raneen Abu Shqara   +3 more
wiley   +1 more source

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