Results 71 to 80 of about 12,046 (150)

Antioxidant System Disturbances, Bioenergetic Disruption, and Glial Reactivity Induced by Methylmalonic Acid in the Developing Rat Brain

Neuroglia
Background: Elevated levels of methylmalonic acid (MMA) are observed in the bodily fluids and tissues of patients with methylmalonic aciduria, a metabolic disorder characterized by manifestations such as vomiting, lethargy, muscle weakness, seizures, and
Cristiano Antonio Dalpizolo, Josyane de Andrade Silveira, Manuela Bianchin Marcuzzo, Vitor Gayger-Dias, Vanessa-Fernanda Da Silva, Camila Vieira Pinheiro, Bruno Pereira dos Santos, Tiago Franco de Oliveira, Carlos-Alberto Gonçalves, Guilhian Leipnitz   +9 more
doaj   +1 more source

Metabolic signatures and a diagnostic model for citrin deficiency based on urinary organic acids

Clinical and Translational Medicine, Volume 15, Issue 9, September 2025.
Urinary organic acid profiles in NICCD show enrichment in energy and amino acid pathways. The random forest model differentiates NICCD from non‐specific metabolic abnormalities, both with elevated 4‐hydroxyphenyllactic acid and 4‐hydroxyphenylpyruvic acid, which may cause misdiagnosis. Model explanation and web application help physicians make clinical
Peiyao Wang, Peichun Chen, Xinjie Yang, Ziyan Cen, Yu Zhang, Qimin He, Benqing Wu, Xinwen Huang   +7 more
wiley   +1 more source

An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment

The Turkish Journal of Pediatrics, 2019
Functional methionine synthase deficiency can be separated into two classes, cobalamin (Cbl) deficiency type E (CblE) and type G (CblG), which are the result of mutations that affect methionine synthase reductase or methionine synthase, respectively ...
Çiğdem Seher Kasapkara, Ebru Yılmaz-Keskin, Ferda Özbay-Hoşnut, Meltem Akçaboy, Emine Polat, Asburçe Olgaç, Pelin Zorlu   +6 more
doaj   +1 more source

Delivering the Message: Translating mRNA Therapy for Liver Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT mRNA encapsulated in lipid nanoparticles (LNPs) provides a dual revolution in the field of gene therapy. mRNA brings fleeting efficacy and the possibility to adjust the therapy to clinical needs. LNP, as a non‐viral vehicle with flexible organ‐targeting, overcomes most immune complications of viral gene therapy. mRNA‐LNP has rapidly progressed
Sonam Gurung, Dany Perocheau, Roopkatha Ghosh, Stephen L. Hart, Julien Baruteau   +4 more
wiley   +1 more source

Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists

Orphanet Journal of Rare Diseases, 2022
Background Methylmalonic aciduria and homocystinuria, CblC type (OMIM #277400) is the most common disorder of cobalamin intracellular metabolism, an autosomal recessive disease, whose biochemical hallmarks are hyperhomocysteinemia, methylmalonic aciduria
Silvia Kalantari, Brigida Brezzi, Valeria Bracciamà, Antonella Barreca, Paolo Nozza, Tiziana Vaisitti, Antonio Amoroso, Silvia Deaglio, Marco Manganaro, Francesco Porta, Marco Spada   +10 more
doaj   +1 more source

Phylogenomics Untangles the Metabolic Potential of Picochlorum tauri, a New Picoalgal Species Causing a Winter Bloom in the Mediterranean Thau Lagoon

Environmental Microbiology, Volume 27, Issue 9, September 2025.
An intense green algal proliferation with severe ecological consequences occurred during the winter season in one of the largest lagoons on the French Mediterranean coast. The study contributes to the understanding of the rise and resilience of the tiny photosynthetic eukaryote, which thrived in cool waters under low solar radiance.
Béatrice Bec, Franck Lagarde, Angélique Gobet, Riccardo Aiese Cigliano, Marco Di Marsico, Jean‐Michel Hermel, Marion Richard, Emilie Le Floc’h, Robert van Lis, Ariane Atteia   +9 more
wiley   +1 more source

Screening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT The number of inherited metabolic diseases (IMDs) in newborn screening (NBS) programs has increased significantly in the past decades. For some of the IMDs included in NBS (e.g., tyrosinemia type I), there are clear and substantial health benefits of NBS, while for others (e.g., very long chain acyl CoA dehydrogenase deficiency and 3 ...
Mirjam Langeveld, Sandra Sirrs, Daphne H. Schoenmakers, Timothy Fazio, Melanie M. van der Klauw, Francois Maillot, Reena Sharma, Christel Tran, Athanasia Ziagaki, Fanny Mochel   +9 more
wiley   +1 more source

SAXS fingerprints of aldehyde dehydrogenase oligomers

Data in Brief, 2015
Enzymes of the aldehyde dehydrogenase (ALDH) superfamily catalyze the nicotinamide adenine dinucleotide-dependent oxidation of aldehydes to carboxylic acids.
John J. Tanner
doaj   +1 more source

Chemical Tomography of Cancer Organoids and Cyto‐Proteo‐Genomic Development Stages Through Chemical Communication Signals

Advanced Materials, Volume 37, Issue 12, March 26, 2025.
This article presents a non‐destructive molecular encoding approach using hierarchical array of functionalized graphene‐based sensors for spatiotemporal analysis of volatile signaling molecules. Combined with deep learning, this method enables real‐time imaging and genetic profiling of organoids, deciphering molecular production pathways through ...
Arnab Maity, Vivian Darsa Maidantchik, Keren Weidenfeld, Sarit Larisch, Dalit Barkan, Hossam Haick   +5 more
wiley   +1 more source

Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population

Frontiers in Genetics, 2018
The incidence of inborn errors of metabolisms (IEMs) varies dramatically in different countries and regions. Expanded newborn screening for IEMs by tandem mass spectrometry (MS/MS) is an efficient approach for early diagnosis and presymptomatic treatment
Kejian Guo, Xuan Zhou, Xuan Zhou, Xigui Chen, Yili Wu, Yili Wu, Yili Wu, Chuanxin Liu, Chuanxin Liu, Qingsheng Kong, Qingsheng Kong   +10 more
doaj   +1 more source