Results 41 to 50 of about 8,712 (196)

Inherited selective cobalamin malabsorption in Komondor dogs associated with a CUBN splice site variant

BMC Veterinary Research, 2018
Background Three Komondor dogs in a small family and 3 sporadic cases exhibited a constellation of signs that included juvenile-onset of failure-to-thrive, inappetence, vomiting and/or diarrhea, and weakness.
John C. Fyfe, Shelby L. Hemker, Alycia Frampton, Karthik Raj, Peter L. Nagy, Kristi J. Gibbon, Urs Giger   +6 more
doaj   +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

Long-term outcome of a patient with Transcobalamin deficiency caused by the homozygous c.1115_1116delCA mutation in TCN2 gene: a case report

Italian Journal of Pediatrics, 2021
Background Transcobalamin deficiency is a rare autosomal recessive inborn error of cobalamin transport (prevalence:
Francesco Martino, Alessandra Magenta, Maria Letizia Troccoli, Eliana Martino, Concetta Torromeo, Carolina Putotto, Francesco Barillà   +6 more
doaj   +1 more source

Case Report: A Case of Adult Methylmalonic Acidemia With Bilateral Cerebellar Lesions Caused by a New Mutation in MMACHC Gene

Frontiers in Neurology, 2022
Methylmalonic acidemia is a severe heterogeneous disorder of methylmalonate and cobalamin (Cbl; vitamin B12) metabolism with poor prognosis. Around 90% of reported patients with methylmalonic acidemia (MMA) are severe infantile early onset, while cases ...
Shengnan Wang, Xu Wang, Jianxin Xi, Wenzhuo Yang, Mingqin Zhu   +4 more
doaj   +1 more source

Transcobalamin II Deficiency in Four Cases with Novel Mutations

Turkish Journal of Hematology, 2015
INTRODUCTION: Transcobalamin II deficiency is one of the rare causes of inherited vitamin B12 disorders in which the patients have characteristically normal or high vitamin B12 levels related to the transport defect of vitamin B12 into the cell, ending ...
Sule Unal, Tony Rupar, Sevgi Yetgin, Nese Yarali, Ali Dursun, Türkiz Gürsel, Mualla Cetin   +6 more
doaj   +1 more source

Kidney-Limited Microangiopathy Associated with Methionine Synthase (Cobalamin G) Deficiency in a Pediatric Patient: Case Report and Review of the Literature

Glomerular Diseases
Thrombotic microangiopathy (TMA) is a recognized sequela of inborn errors of metabolism impacting vitamin B12 (cobalamin) synthesis. Methylmalonic aciduria and homocystinuria, cobalamin deficiency type C is a well-known etiology for TMA.
Jonathan E. Zuckerman, Rachana Srivastava   +1 more
doaj   +1 more source

Overview of Encapsulated Lysine and Methionine and Their Impacts on Transition Cow Performance and Health

Animal Research and One Health, EarlyView.
The transition period in dairy cows, spanning 3 weeks before and after calving, is a critical phase characterized by increased nutrient demands, reduced dry matter intake (DMI), and elevated risk of metabolic disorders such as negative nutrient balance (NNB), lipolysis, proteolysis, and oxidative stress.
Mohammed S. Seleem, Samy A. Elsaadawy, Zhaohai Wu, Lu Ma, Todd R. Callaway, Dengpan Bu   +5 more
wiley   +1 more source

Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease

iScience, 2022
Summary: Nutritional deficiency and genetic errors that impair the transport, absorption, and utilization of vitamin B12 (B12) lead to hematological and neurological manifestations.
Anna J. Esser, Srijan Mukherjee, Ilia A. Dereven’kov, Sergei V. Makarov, Donald W. Jacobsen, Ute Spiekerkoetter, Luciana Hannibal   +6 more
doaj   +1 more source

Effective pretreatment of wet microalgal biomass to enhance lipid extraction in biodiesel production

Biofuels, Bioproducts and Biorefining, EarlyView.
Abstract Biodiesel is a viable alternative to fossil fuels. Identifying and evaluating nonedible sources is essential to address ecological concerns and meet energy demands. Microalgae are effective for lipid production but their rigid cell walls hinder bioproduct release making the process energy‐intensive and costly.
Amarnath Krishnamoorthy, Andy Durrant, Cristina Rodriguez   +2 more
wiley   +1 more source

Epimutation of MMACHC compound to a genetic mutation in cblC cases

Molecular Genetics & Genomic Medicine, 2021
Background Methylmalonic aciduria (MMA) combined with homocystinuria, cobalamin(cbl)C deficiency type (OMIM 277400), is the most common autosomal recessive inherited disorder of intracellular cobalamin metabolism caused by mutations in the MMACHC gene ...
Xiaoman Zhang, Qiong Chen, Yinsen Song, Pengbo Guo, Yanhong Wang, Shuying Luo, Yaodong Zhang, Chongchen Zhou, Dongxiao Li, Yongxing Chen, Haiyan Wei   +10 more
doaj   +1 more source