[HTML][HTML] Targeted metabolomic profiling in rat tissues reveals sex differences
M Ruoppolo, M Caterino, L Albano, R Pecce… - Scientific Reports, 2018 - nature.com
Sex differences affect several diseases and are organ-and parameter-specific. In humans
and animals, sex differences also influence the metabolism and homeostasis of amino acids …
and animals, sex differences also influence the metabolism and homeostasis of amino acids …
[HTML][HTML] Label-free quantitative proteomics in a methylmalonyl-CoA mutase-silenced neuroblastoma cell line
Methylmalonic acidemias (MMAs) are inborn errors of metabolism due to the deficient
activity of methylmalonyl-CoA mutase (MUT). MUT catalyzes the formation of succinyl-CoA …
activity of methylmalonyl-CoA mutase (MUT). MUT catalyzes the formation of succinyl-CoA …
[HTML][HTML] High incidence of low vitamin B12 levels in Estonian newborns
K Reinson, K Künnapas, A Kriisa, MA Vals… - Molecular Genetics and …, 2018 - Elsevier
Vitamin B12 deficiency seems to be more common worldwide than previously thought.
However, only a few reports based on data from newborn screening (NBS) programs have …
However, only a few reports based on data from newborn screening (NBS) programs have …
[HTML][HTML] Diagnostic value of plasma tryptophan and symmetric dimethylarginine levels for acute kidney injury among tacrolimus-treated kidney transplant patients by …
F Zhang, Q Wang, T Xia, S Fu, X Tao, Y Wen… - Scientific Reports, 2018 - nature.com
Few literatures have evaluated the exact role of metabolomics in the identification process of
potential biomarkers for acute kidney injury among the patients receiving renal …
potential biomarkers for acute kidney injury among the patients receiving renal …
High incidence of maternal vitamin B12 deficiency detected by newborn screening: first results from a study for the evaluation of 26 additional target disorders for the …
G Gramer, J Fang-Hoffmann, P Feyh, G Klinke… - World Journal of …, 2018 - Springer
Background Newborn screening (NBS) in Germany currently includes 15 target disorders.
Recent diagnostic improvements suggest an extension of the screening panel. Methods …
Recent diagnostic improvements suggest an extension of the screening panel. Methods …
[HTML][HTML] Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl
C Cozzolino, GRD Villani, G Frisso… - … and Molecular Biology, 2018 - SciELO Brasil
Methylcrotonylglycinuria is an organic aciduria resulting from deficiency of 3-methylcrotonyl-
CoA carboxylase (3-MCC), a biotin-dependent mitochondrial enzym carboxylating 3 …
CoA carboxylase (3-MCC), a biotin-dependent mitochondrial enzym carboxylating 3 …
[PDF][PDF] Screening neonatale esteso delle malattie rare e prevenzione di una carenza vitaminica
E Romagna - La Rivista delle Malattie Rare - malattierare.eu
Perché lo screening per le malattie rare identifica il neonato carente di B12? Quando allo
screening neonatale esteso si trova un aumento di C3 (propionilcarnitina), questo conduce …
screening neonatale esteso si trova un aumento di C3 (propionilcarnitina), questo conduce …
[引用][C] Feng Zhang1, Qinghua Wang2, 3, Tianyi Xia1, Shangxi Fu4, Xia Tao1, Yan Wen1, Shen'an Chan5
S Gao, X Xiong, W Chen - SCienTifiC REPORTS, 2018