Results 91 to 100 of about 7,346 (216)

Assessment of cellular cobalamin metabolism in Gaucher disease

open access: yesBMC Medical Genetics, 2020
Background Gaucher disease (GD) is a lysosomal disorder caused by biallelic pathogenic mutations in the GBA1 gene that encodes beta-glucosidase (GCase), and more rarely, by a deficiency in the GCase activator, saposin C.
Suelen Porto Basgalupp   +6 more
doaj   +1 more source

Nasal Drug Delivery Systems: An Overview [PDF]

open access: yes, 2015
Since ancient times, drugs have been administered via the nasal route for therapeutic and recreational purposes. The interest in, and importance, of the systemic effects of drugs administered through the nasal route, have expanded over recent decades ...
Conway, Barbara R.   +3 more
core   +1 more source

Improved biochemical and neurodevelopmental profiles with high‐dose hydroxocobalamin therapy in cobalamin C defect

open access: yesJournal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Cobalamin C (Cbl‐C) defect causes methylmalonic acidemia, homocystinuria, intellectual disability and visual impairment, despite treatment adherence. While international guidelines recommend parenteral hydroxocobalamin (OH‐Cbl) as effective treatment, dose adjustments remain unclear.
Giorgia Olivieri   +10 more
wiley   +1 more source

Efficacy of methylcobalamin to normalise elevated homocysteine of vitamin B12 deficient vegetarians: a double blind placebo control study [PDF]

open access: yes, 2015
Vegetarians are known to be deficient in vitamin B12, due to a lack of dietary animal products, which can elevate plasma total homocysteine (tHcy). Elevated total tHcy can render vegetarians susceptible to cardiovascular disease (CVD).
Chappell, David   +3 more
core   +1 more source

Efficacy of intramuscular hydroxocobalamin supplementation in cats with cobalamin deficiency and gastrointestinal disease

open access: yesJournal of Veterinary Internal Medicine, 2020
Background In humans, absorption and tissue retention rates of intramuscularly administered hydroxocobalamin (OH‐Cbl) are superior compared to cyanocobalamin (CN‐Cbl). Supplementation with OH‐Cbl has not been described in cats.
Peter H. Kook   +2 more
doaj   +1 more source

Spectrophotometric analysis of purple urine secondary to methylene blue and hydroxocobalamin co-administration [PDF]

open access: hybrid, 2023
Jeremy Hardin   +4 more
openalex   +1 more source

Cysteine and cysteine-related signaling pathways in arabidopsis thaliana [PDF]

open access: yes, 2014
Cysteine occupies a central position in plant metabolism because it is a reduced sulfur donor molecule involved in the synthesis of essential biomolecules and defense compounds.
Aroca Aguilar, Ángeles   +5 more
core   +1 more source

Effect of vitamin B12 derivatives on urinary excretion of methylmalonic acid in liver diseases [PDF]

open access: yes, 1970
1. Twenty.one patients with liver diseases were studied for their urinary mehylmalonic acid excretion after a valine load by means of an improved thin layer chromatography. 2.
Taketa, Kazuhisa, Ueda, Masatoshi
core   +1 more source

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