Results 81 to 90 of about 10,064 (198)

Amino Acid Metabolism in Health and Disease

MedComm, Volume 7, Issue 9, September 2026.
This graphical abstract delineates the multifaceted role of amino acid metabolism in health and disease. It illustrates how amino acids sustain physiological homeostasis across the liver, kidney, brain, heart, intestine, muscle, skeleton, and immune system.
Zhiwei Su, Jinyu Liu, Xiaoliang Deng, Yanqun Luo, Haiping Xue, Lei Wang, Lianjun Xing, Tao Wu   +7 more
wiley   +1 more source

Nutritional quality traits in pea seed: Current knowledge and opportunities for genetic improvement

Annals of Applied Biology, Volume 189, Issue 2, September 2026.
This comprehensive review on nutritional traits in pea (Pisum sativum L.) summarizes the literature on genetic improvement of this highly nutritious and environmentally sustainable crop for different end‐uses. Abstract Pea is a major pulse crop valued for its high protein, carbohydrate, and mineral content, as well as its agronomic role in sustainable ...
Ahmed O. Warsame, Janneke Balk
wiley   +1 more source

On the History of Hepatic Vein Catheterization

Liver International, Volume 46, Issue 9, September 2026.
ABSTRACT Hepatic vein catheterization (HVC) in man was first performed 80 years ago in the wake of right‐sided heart catheterization. Several new methods, recognitions and concepts followed, especially the indirect Fick‐method for determination of splanchnic blood flow. Five years passed before pressure measurements were performed and routine HVCs were
Jens Henrik Henriksen, Flemming Bendtsen, Søren Møller   +2 more
wiley   +1 more source

Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022

Frontiers in Genetics
Inborn errors of metabolism (IEMs) are uncommon. Although some studies have explored the distribution and characteristics of IEMs in newborns, the impact of these disorders on hospitalized newborns remains unclear. In this study, we gathered data from 21,
Dongjuan Wang, Juan Zhang, Rui Yang, Dayong Zhang, Ming Wang, Chaowen Yu, Jingli Yang, Wenxia Huang, Shan Liu, Shi Tang, Xiaoyan He   +10 more
doaj   +1 more source

Functional Analysis of A Novel Splicing Mutation in The Mutase Gene of Two Unrelated Pedigrees

Cell Journal, 2016
Objective: Methylmalonic acidura (MMA) is a rare autosomal recessive inborn error of metabolism. In this study we present a novel nucleotide change in the mutase (MUT) gene of two unrelated Iranian pedigrees and introduce the methods used for its ...
Somayeh Ahmadloo, Saeed Talebi, Mohammad Miryounesi, Parvin Pasalar, Mohammad Keramatipour   +4 more
doaj  

Argininosuccinic Aciduria: An Inborn Error of Amino Acid Metabolism [PDF]

Archives of Disease in Childhood, 1961
B, LEVIN, H M, MACKAY, V G, OBERHOLZER
openaire   +2 more sources

Small Molecules as Alternate Substrates for 3‐Methylglutaconylation

JIMD Reports
The leucine catabolism pathway intermediate, trans‐3‐methylglutaconyl (3MGC) CoA, is susceptible to a series of non‐enzymatic reactions that generate organic acid waste products and protein 3MGCylation.
Elizabeth A. Jennings, Irina Romenskaia, Robert O. Ryan   +2 more
doaj   +1 more source

Detection of Inborn Errors of Metabolism using Tandem Mass Spectrometry among High-risk Omani Patients

Oman Medical Journal, 2012
Objectives: This is a report on the types and patterns of inborn errors of metabolism (IEMs) of amino acids, organic acids and fatty acids oxidation detected by Tandem Mass Spectrometry for a period of 10 years (1998-2008) at Sultan Qaboos University ...
Sulaiman Al Riyami, Matar Al Maney, Surendra Nath Joshi, Riad Bayoumi   +3 more
doaj  

A Systematic Bioinformatic Analysis of the miRNA Pathway in Inborn Errors of Amino Acid Metabolism Disorders. [PDF]

Mol Syndromol
Bayrak H, Sharafi P, Kılıç M.
europepmc   +1 more source

Fully Automated Serum LC-MS/MS Platform and Pediatric Reference Intervals for Organic Acids, Amino Acids, and Acylcarnitines in Children (Ages 0-6 Years): Toward Quantitative Diagnosis of Inborn Errors of Metabolism. [PDF]

Diagnostics (Basel)
Ueyanagi Y, Setoyama D, Nakanishi T, Mushimoto Y, Tocan V, Kobayashi H, Matsui M, Matsumoto S, Fujishima A, Hotta T, Sakata A, Kunisaki Y.   +11 more
europepmc   +1 more source