Results 111 to 120 of about 5,012,650 (270)

Cyclic β-glucans at the bacteria–host cells interphase: One sugar ring to rule them all [PDF]

, 2018
Cyclic β‐1,2‐D‐glucans (CβG) are natural bionanopolymers present in the periplasmic space of many Proteobacteria. These molecules are sugar rings made of 17 to 25 D‐glucose units linked exclusively by β‐1,2‐glycosidic bonds.
Arce Gorvel, Vilma, Ciocchini, Andres Eduardo, Comerci, Diego José, Gorvel, Jean-Pierre, Guidolin, Leticia Soledad   +4 more
core   +1 more source

“Ears of the Lynx” Sign on Brain MRI in Siblings With Spastic Paraplegia: A Case Report

Annals of the Child Neurology Society, Volume 3, Issue 2, Page 105-109, June 2025.
ABSTRACT Background Hereditary spastic paraplegia (HSP) is a rare, clinically and genetically heterogenous condition that selectively affects the terminal segment of the descending corticospinal tract of the lumbar spine area, causing lower extremity spastic weakness with or without associated complex neurological symptoms.
Qingqing Wang, Manikum Moodley
wiley   +1 more source

Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia

Cell Reports, 2017
Summary: Isolated methylmalonic acidemia/aciduria (MMA) is a devastating metabolic disorder with poor outcomes despite current medical treatments. Like other mitochondrial enzymopathies, enzyme replacement therapy (ERT) is not available, and although ...
Ding An, Jessica L. Schneller, Andrea Frassetto, Shi Liang, Xuling Zhu, Ji-Sun Park, Matt Theisen, Sue-Jean Hong, Jenny Zhou, Raj Rajendran, Becca Levy, Rebecca Howell, Gilles Besin, Vladimir Presnyak, Staci Sabnis, Kerry E. Murphy-Benenato, E. Sathyajith Kumarasinghe, Timothy Salerno, Cosmin Mihai, Christine M. Lukacs, Randy J. Chandler, Lin T. Guey, Charles P. Venditti, Paolo G.V. Martini   +23 more
doaj  

Methylmalonic Acid and Homocysteine as Indicators of Vitamin B-12 Deficiency in Cancer

PLoS ONE, 2016
Background/Aims Normal or high serum vitamin B-12 levels can sometimes be seen in a B-12 deficient state, and can therefore be misleading. High levels of Methymalonic Acid (MMA) and Homocysteine (HC) have been identified as better indicators of B-12 ...
P. Vashi, Persis Edwin, B. Popiel, C. Lammersfeld, D. Gupta   +4 more
semanticscholar   +1 more source

Elucidation of Mechanism of Action in Drug Invention: Using Stable Isotope Tracers to Unravel Biochemical Kinetics

Pharmacology Research &Perspectives, Volume 13, Issue 3, June 2025.
ABSTRACT The invention of a therapeutic begins by characterizing features that differentiate healthy versus diseased states; this often presents as changes in the concentration of an analyte. Examples include elevated blood glucose in diabetes, high cholesterol in heart disease, and protein aggregation in neurodegeneration.
Rebecca A. Kohnz, Dan Zhou, Bin Lou, Huifang Yao, David McKenney, Dhiraj Dokwal, Ruth Villanueva, Heidi Kocalis, Jeanine E. Ballard, Jennifer Piesvaux, Stephen F. Previs   +10 more
wiley   +1 more source

Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: A retrospective observational study [PDF]

, 2016
BACKGROUND: Isovaleric aciduria (IVA), propionic aciduria (PA) and methylmalonic aciduria (MMA) are inherited organic acidurias (OAs) in which impaired organic acid metabolism induces hyperammonaemia arising partly from secondary deficiency of N ...
Baruteau, J, Cano, A, Chakrapani, A, Coker, M, Couce, ML, Del Toro, M, Delgado, MB, Donati, MA, Garcia-Cazorla, A, Gil-Ortega, D, Gomez-De Quero, P, Guffon, N, Hofstede, FC, Kalkan-Ucar, S, Lama-More, R, Le Mouhaer, J, Martinez-Pardo Casanova, M, Molina, A, Papadia, F, Pichard, S, Plisson, C, Rosello, P, Valayannopoulos, V   +22 more
core   +1 more source

The Role of Metabolic Testing in the Diagnostic Evaluation of Adult NORSE: A Retrospective, Single‐Centre Study

European Journal of Neurology, Volume 32, Issue 6, June 2025.
ABSTRACT Background New‐onset refractory status epilepticus (NORSE) is a diagnostically challenging and severe epileptic presentation in which aetiology is an important predictor of outcome. This retrospective study aimed to investigate the utility of metabolic screening to determine the underlying cause in 42 patients with suspected NORSE, admitted to
Jennifer Kilmer, George Ransley, Elaine Murphy, Michael G. Hanna, Robert D. S. Pitceathly, Sanjeev Rajakulendran, Chiara Pizzamiglio   +6 more
wiley   +1 more source

Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics. [PDF]

, 2019
Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways by genetic mutations, either directly or indirectly by cofactor deficiencies ...
Fiehn, Oliver, Ismail, Israa T, Showalter, Megan R   +2 more
core   +2 more sources

Maleic Acid – but Not Structurally Related Methylmalonic Acid – Interrupts Energy Metabolism by Impaired Calcium Homeostasis

PLoS ONE, 2015
Maleic acid (MA) has been shown to induce Fanconi syndrome via disturbance of renal energy homeostasis, though the underlying pathomechanism is still under debate.
A. Tuncel, T. Ruppert, Bei-Tzu Wang, J. Okun, S. Kölker, M. Morath, S. Sauer   +6 more
semanticscholar   +1 more source

The Value of Liver Transplantation for Methylmalonic Acidemia

Frontiers in Pediatrics, 2019
Introduction: MMA is a rare autosomal recessive disorder with the manifestation of recurrent and severe episodes of acute metabolic decompensation or a variety of long-term complications that require timely treatment. While conventional long-term medical
Yi-Zhou Jiang, Yi-Zhou Jiang, Li-Ying Sun, Li-Ying Sun, Li-Ying Sun   +4 more
doaj   +1 more source