Results 111 to 120 of about 585 (187)

Peroxisomes and their central role in metabolic interaction networks in humans

, 2018
Peroxisomes catalyze a number of essential metabolic functions and impairments in any of these are usually associated with major clinical signs and symptoms. In contrast to mitochondria which are autonomous organelles that can catalyze the degradation of
Ronald J. A. Wanders, Waterham, Hans R., Wanders, Ronald J. A., Ferdinandusse, Sacha, Sacha Ferdinandusse, Hans R. Waterham   +5 more
core   +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

ABCA4‐Associated Retinal Degeneration in 8 Families From the Three Provinces of Northeast China: Identification and Characterization of Potentially Novel Variants

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
This study reports the documented case of ABCA4‐associated early‐onset severe retinal dystrophy in China, broadens the mutational spectrum of ABCA4 in this population, and highlights distinct genotype–phenotype correlations that may inform clinical management and genetic counseling.
Nian Li, Linlin Su, Yue Ren, Ye Liu, Jiayuan Ge, Henan Sun, Zhuoshi Wang   +6 more
wiley   +1 more source

Amino Acid Needs and Metabolism in Preterm and Term Infants

, 2012
Organic substances that consist of both an amino group (−NH2) and an acidic carboxyl group (−COOH) are named amino acids (AA). Over 300 amino acids are known to exist in nature but only 20 amino acids serve as the building blocks of protein in humans and
Vermeulen, Marijn J.; id_orcid, Van Goudoever, Johannes B., Marijn J. Vermeulen, Johannes B. van Goudoever, Corpeleijn, Willemijn E., Willemijn E. Corpeleijn   +5 more
core   +1 more source

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency

Clinical Genetics, Volume 110, Issue 1, Page 125-130, July 2026.
We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig, Taciane Alegra, Leonardo Martinello da Rosa, Nataniel Floriano Ludwig, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz   +5 more
wiley   +1 more source

Dissecting the genetic basis of drought escape across multiple traits in colonizing Arabidopsis thaliana lineages

New Phytologist, Volume 251, Issue 1, Page 537-554, July 2026.
Cape Verde Islandspopulations experience seasonal drought and high humidity during the growing season, driving drought escape strategies relative to their Moroccan outgroup. Summary Drought response in plants is complex, involving integration across a range of physiological processes.
Ahmed F. Elfarargi, Elodie Gilbault, Nina Döring, Herculano Dinis, Andreas P. M. Weber, Olivier Loudet, Angela M. Hancock   +6 more
wiley   +1 more source

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

Fecal Amino Acid Analysis Can Discriminate De Novo Treatment-Naïve Pediatric Inflammatory Bowel Disease From Controls

, 2018
Endoscopy remains mandatory in the diagnostic work-up of inflammatory bowel disease (IBD), but is a costly and invasive procedure. Identification of novel, non-invasive, diagnostic biomarkers remains a priority.
Jansen, Erwin W., Marc A. Benninga, van Gaal, Nora, Bakkali, Abdellatif, Benninga, Marc A, Diederen, Kay, Abdellatif Bakkali, Sofie Bosch, de Meij, Tim G J, Kay Diederen, Jansen, Erwin W, de Meij, Tim G. J., Nora van Gaal, Nanne K.H. de Boer, de Boer, Nanne K. H., Struys, Eduard A, Benninga, Marc A., Eduard A. Struys, Struys, Eduard A., Tim G.J. de Meij, Mulder, Chris J, Erwin W. Jansen, Mulder, Chris J., Chris J. Mulder, de Boer, Nanne K H, Bosch, Sofie   +25 more
core   +1 more source

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

Study of amino acid disorders among a high risk group of Egyptian infants and children

, 2009
Aim of the work: The present work aimed at investigating infants (In neonatal and post neonatal period) and children suspected of having inborn errors of metabolism with unexplained mental retardation.
Shawky, RM, Rashad, M, Eldin, EMB, Mahmoud, AO, Elsedfy, HH   +4 more
core