American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins +9 more
wiley +1 more source
Vitamin B-12 in Human Milk: A Systematic Review. [PDF]
Adv Nutr, 2018 Dror DK, Allen LH.
europepmc +1 more source
Interpretation of vitamin B-12 and folate concentrations in population-based surveys does not require adjustment for inflammation: Biomarkers Reflecting Inflammation and Nutritional Determinants of Anemia (BRINDA) project. [PDF]
Am J Clin Nutr, 2020 Young MF +9 more
europepmc +1 more source
Spinal Involvement in Charge Syndrome: Implications for Management
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes +5 more
wiley +1 more source
Another indication for the use of oral vitamin B-12 supplementation. [PDF]
Am J Clin Nutr, 2018 Alpers DH.
europepmc +1 more source
Associations of Circulating Methylmalonic Acid and Vitamin B-12 Biomarkers Are Modified by Vegan Dietary Pattern in Adult and Elderly Participants of the Adventist Health Study 2 Calibration Study. [PDF]
Curr Dev Nutr, 2020 Haddad EH +3 more
europepmc +1 more source
Angewandte Chemie, EarlyView.This review highlights an emerging anticancer approach integrating platinum agents into photodynamic therapy (PDT) and photoactivated chemotherapy (PACT) systems, further augmented by cancer cell membrane‐ and organelle‐targeting. By directing photoactivated platinum complexes from nontargeted distribution to cancer cells or defined subcellular sites ...
Shu Chen +3 more
wiley +2 more sources
Proton Pump Inhibitors, H2-Receptor Antagonists, Metformin, and Vitamin B-12 Deficiency: Clinical Implications. [PDF]
Adv Nutr, 2018 Miller JW.
europepmc +1 more source
Flavin Catalysts in Organic Synthesis
Angewandte Chemie, EarlyView.Flavins and their congeners are potent catalysts for organic synthesis inspired by enzymatic transformations. In addition to catalysis in the flavin ground state via covalent intermediates, the excited singlet and triplet states unlock applications including photooxidation, photoreduction, and energy transfer via sensitization.
Jan Freudenberg, Golo Storch
wiley +2 more sources