Vitamin B12 in Foods, Food Supplements, and Medicines—A Review of Its Role and Properties with a Focus on Its Stability
Ž Temova Rakuša, R Roškar, N Hickey, S Geremia - Molecules, 2022 - mdpi.com
Vitamin B12, also known as the anti-pernicious anemia factor, is an essential micronutrient
totally dependent on dietary sources that is commonly integrated with food supplements …
totally dependent on dietary sources that is commonly integrated with food supplements …
Recognizing and Managing a Metabolic Crisis
PR Baker - Pediatric Clinics, 2023 - pediatric.theclinics.com
Inborn errors of metabolism (IEM) are genetic disorders involving biochemical pathways
throughout the body. Categorically, there are subsets of these disorders that cause acute …
throughout the body. Categorically, there are subsets of these disorders that cause acute …
Would, early, versus late hydroxocobalamin dose intensification treatment, prevent cognitive decline, macular degeneration and ocular disease, in 5 patients with …
E Scalais, C Geron, C Pierron, S Cardillo… - Molecular Genetics and …, 2023 - Elsevier
In early-onset (EO) cblC deficiency (MMACHC), hydroxocobalamin do s e-intensification
(OHCBL-DI) improved biochemical and clinical outcome. In mammals, Cobalamin is …
(OHCBL-DI) improved biochemical and clinical outcome. In mammals, Cobalamin is …
Improved biochemical and neurodevelopmental profiles with high‐dose hydroxocobalamin therapy in cobalamin C defect
G Olivieri, B Greco, S Cairoli, G Catesini… - Journal of Inherited …, 2024 - Wiley Online Library
Abstract Cobalamin C (Cbl‐C) defect causes methylmalonic acidemia, homocystinuria,
intellectual disability and visual impairment, despite treatment adherence. While …
intellectual disability and visual impairment, despite treatment adherence. While …
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias
AT Reischl‐Hajiabadi, E Schnabel… - Journal of Inherited …, 2024 - Wiley Online Library
The current German newborn screening (NBS) panel includes 13 inherited metabolic
diseases (IMDs). In addition, a NBS pilot study in Southwest Germany identifies individuals …
diseases (IMDs). In addition, a NBS pilot study in Southwest Germany identifies individuals …
Case presentation: a severe case of cobalamin c deficiency presenting with nephrotic syndrome, malignant hypertension and hemolytic anemia
Background The etiology of nephrotic syndrome can vary, with underlying metabolic
diseases being a potential factor. Cobalamin C (cblC) defect is an autosomal recessive …
diseases being a potential factor. Cobalamin C (cblC) defect is an autosomal recessive …