Results 71 to 80 of about 19,626,692 (182)

Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level

, 2015
Cobalamin C (CblC) disease is the most common inherited disorder of intracellular cobalamin metabolism. It is a multisystemic disorder mainly affecting the eye and brain and characterized biochemically by methylmalonic aciduria, low methionine level, and
Esra Serdaroglu, Serdaroglu, Esra, Can Ficicioglu, Ficicioglu, Can, Muraresku, Colleen, Colleen Muraresku, Ahrens-Nicklas, Rebecca C., Rebecca C. Ahrens-Nicklas   +7 more
core   +1 more source

Case Report: Dilated cardiomyopathy as the initial presentation in an adult with late-onset CblC defect

Frontiers in Cardiovascular Medicine
Combined methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, represents the most common inborn error of cobalamin metabolism, caused by pathogenic variants in the MMACHC gene.
Dongling Xu, Chi Zhang, Lin Hao, Shaojie Bi, Aiying Xue, Liangshuai Yuan, Wenke Wang   +6 more
doaj   +1 more source

Influence of Vitamin B12 Deficiency on Auditory and Vestibular Functioning: An Objective Test‐Based Systematic Review

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To evaluate the effectiveness of objective audiological and vestibular assessments in detecting functional changes associated with vitamin B12 deficiency. Data Sources A comprehensive literature search was conducted in PubMed, Scopus, Web of Science, and EMBASE databases.
Nesmah Zainab, Santhosh Periyasamy, Kishan Madikeri Mohan   +2 more
wiley   +1 more source

Cobalamin-Dependent Apparent Intramolecular Methyl Transfer for Biocatalytic Constitutional Isomerization of Catechol Monomethyl Ethers

, 2019
Isomerization is a fundamental reaction in chemistry. However, isomerization of phenyl methyl ethers has not been described yet. Using a cobalamin-dependent methyl transferase, a reversible shuttle concept was investigated for isomerization of catechol ...
Wolfgang Kroutil (1279629), Ferdinand Zepeck, Katharina Hiebler (1674478), Sarah Bierbaumer, Ferdinand Zepeck (1479463), Katharina Hiebler, Wolfgang Kroutil, Wolfgang Skibar (2723902), Judith E. Farnberger (6550892), Judith E. Farnberger, Sarah Bierbaumer (6550895), Wolfgang Skibar   +11 more
core   +1 more source

Exposure to Structurally Related Organophosphate Esters Elicits Distinct Metabolomic Perturbations in Daphnia magna

Environmental Toxicology, EarlyView.
ABSTRACT Organophosphate esters (OPEs) are found ubiquitously in the environment and exposure to these chemicals has induced behavioral, developmental, and morphological impairments in several model organisms. Yet there is still a lack of understanding of how sub‐lethal exposure disrupts organism function at the molecular‐level, especially for Daphnia ...
Salwa Hajir, Sanam Yousifie, Karl J. Jobst, André J. Simpson, Myrna J. Simpson   +4 more
wiley   +1 more source

Seasonal Dynamics of Community and Function of Gut Microbiome in Taihangshan Macaque (Macaca mulatta tcheliensis): Inferred From Metagenomic Data

Integrative Zoology, EarlyView.
A total of 435 non‐redundant metagenome‐assembled genomes (MAGs) were obtained from fecal samples of Taihangshan macaque across all four seasons. The alpha diversity of the gut microbiome in spring and winter was significantly higher than in summer and autumn. Furthermore, marked differences were detected in functional pathways and carbohydrate enzymes
Yanyan Zhou, Qi Shao, Chunbo Liu, Jundong Tian, Xiaowen Guan, Xi Zhang, Jiqi Lu   +6 more
wiley   +1 more source

Pulmonary hypertension in late-onset Methylmalonic Aciduria and Homocystinemia: a case report

BMC Pediatrics, 2020
Background Methylmalonic Aciduria and Homocystinemia, cobalamin C (cblC) is an inherited disease of vitamin B12 metabolism with a wide spectrum of clinical manifestations.
Ling-yi Wen, Ying-kun Guo, Xiao-qing Shi
doaj   +1 more source

Neuropsychiatric sequelae of chronic nitrous oxide misuse in middle‐aged adults: A case series

The American Journal on Addictions, EarlyView.
Abstract Background and Objectives Chronic nitrous oxide (N2O) misuse causes heterogeneous neuropsychiatric toxicity. Methods We retrospectively reviewed three middle‐aged adults with chronic N2O misuse and neuropsychiatric presentations. Results Presentations included cognitive impairment, hallucinations, and variable neurologic dysfunction ...
Theodore Tsonis, Nassima Ait‐Daoud Tiouririne, Nathan P. Charlton, Avery Michienzi   +3 more
wiley   +1 more source

Differential Sperm DNA Methylation Profiles in Healthy Men With High Versus Low Adherence to the Mediterranean Diet in the Led‐Fertyl Study

Andrology, EarlyView.
ABSTRACT Background Diet is known to play an essential role not only in sperm quality but also in offspring health, likely mediated through the sperm epigenome. Moreover, one of the main components of the Mediterranean diet (MedDiet) (i.e., nuts) have shown to impact sperm DNA methylation patterns.
Rashmi Agarwal, Nancy Babio, Estefanía Davila‐Cordova, María Fernández de la Puente, Cristina Valle‐Hita, Carles Arribas, Manel Esteller, Aleix Noguera‐Castells, Raquel Pluvinet, Jordi Salas‐Salvadó, Albert Salas‐Huetos   +10 more
wiley   +1 more source

Sensitivity of the Zebrafish Cobalamin Binder toward Degradation by Trypsin and Chymotrypsin.

, 2012
The cobalamin binder from zebrafish and human TC, HC, and IF were incubated with 57[Co]-cobalamin for 30 minutes before addition of increasing concentrations of trypsin and chymotrypsin (incubation for 18 hours at 37°C).
Eva Greibe (171188), Ebba Nexo (133539), Sergey Fedosov (171192)   +2 more
core   +1 more source