Results 51 to 60 of about 435,892 (214)

Development of infantile tremor syndrome after initiation of hydroxycobalamin treatment in an infant with a late diagnosis of cobalamin C disorder

JIMD Reports, 2020
Combined methylmalonic aciduria and homocystinuria (cobalamin C deficiency, cblC) is a well‐described disorder of vitamin B12 metabolism caused by mutations in the MMACHC gene with multisystemic manifestations.
Ashley Wilson, Vivian Cruz, Jonathan B. Kronick   +2 more
doaj   +1 more source

Cobalamin deficiency in dogs and cats [PDF]

, 2018
Cobalamin is a member of the B-group of vitamins and a cofactor for metabolic processes like nucleic acid synthesis, amino acid synthesis, and the citric acid cycle.
Toresson, Linda, Spillmann, Thomas, Hanisch, Franziska   +2 more
core   +1 more source

Relationships among nitrous oxide exposure, neurological injury and biomarkers

British Journal of Clinical Pharmacology, EarlyView.
Aims Recreational nitrous oxide (N2O) misuse is an increasing public health problem associated with functional cobalamin (B12) deficiency and severe neurological complications. Despite growing recognition of its harms, the dose–response relationship and clinical value of biomarkers remain unclear.
Laxna Bhujel, Angela L. Chiew, Bhashita Jagarlamudi, Pramod Chandru, Naren Gunja, Nancy Briggs, Betty S. Chan   +6 more
wiley   +1 more source

Prevalence of folate, ferritin and cobalamin deficiencies amongst adolescent in India

Journal of Family Medicine and Primary Care, 2014
Background: In India, 60-90% of adolescent suffer from anemia. Studies have documented folate, ferritin, and cobalamin deficiencies to be the major causes of nutritional anemia.
Umesh Kapil, Ajeet Singh Bhadoria
doaj   +1 more source

Neurologic Aspects of Cobalamin Deficiency

Medicine, 1991
We reviewed 153 episodes of cobalamin deficiency involving the nervous system that occurred in 143 patients seen over a recent 17-year period at 2 New York City hospitals. Pernicious anemia was the most common underlying cause of the deficiency. Neurologic complaints, most commonly paresthesias or ataxia, were the first symptoms of Cbl deficiency in ...
E B, Healton, D G, Savage, J C, Brust, T J, Garrett, J, Lindenbaum   +4 more
openaire   +2 more sources

Transcriptomic Profiling of SLC and ABC Transporters in the Human Term Placenta

Clinical Pharmacology &Therapeutics, EarlyView.
Solute carriers (SLC) and ATP‐binding cassette (ABC) transporters are essential for placental solute exchange and fetal protection, yet their transcriptomic profiles in the human placenta remain poorly characterized. Although fetal sex influences placental development and function, its impact on transporter expression is unclear.
Elijah Marsh Jung, Nicholas Ieronimakis, Bothaina Mousa, Emily D. Sheikh, Sarah E. Ligon, Joshua W. Monson, Jennifer R. Damicis, Hillary J. Kinsman, Lydia E. Bettridge, Samuel L.M. Arnold, Edward J. Kelly, Jashvant D. Unadkat, Joanne Wang   +12 more
wiley   +1 more source

Inherited Selective Intestinal Cobalamin Malabsorption and Cobalamin Deficiency in Dogs [PDF]

Pediatric Research, 1991
Inherited selective intestinal malabsorption of cobalamin (Cbl) was observed in a family of giant schnauzer dogs. Family studies and breeding experiments demonstrated simple autosomal recessive inheritance of this disease. Affected puppies exhibited chronic inappetence and failure to thrive beginning between 6 and 12 wk of age.
J C, Fyfe, U, Giger, C A, Hall, P F, Jezyk, S A, Klumpp, J S, Levine, D F, Patterson   +6 more
openaire   +2 more sources

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Synthetic Biology and Food: Applications and Prospects

Food Bioengineering, EarlyView.
Synthetic biology would provide revolutionary technological solutions to produce new food and feed components, such as artificial starch, animo acids, microbial protein, lipids, sweeteners, vitamins.
Yi‐Heng P. Job Zhang
wiley   +1 more source

Cobalamin and iron deficiency still presents a challenge in hereditary hemorrhagic telangiectasia

Scientific Reports
Hereditary hemorrhagic telangiectasia (HHT) leads to fragile blood vessels, causing frequent bleeding and anemia. Treatment mainly addresses iron levels and substitution. Although cobalamin (vitamin B12) is routinely tested in chronic anemia, its role in
Marie Carolin Schleupner, Alexander Röth, Luise Adam, Nadia Sadok, Felicia Toppe, Antonia Klara Lakomek, Sami Wainwright, Noemi Voss, Lukas Boosfeld, Christina Kaiser, Julia Garvert, Stephan Lang, Urban Geisthoff, Freya Droege   +13 more
doaj   +1 more source