Results 41 to 50 of about 2,700,321 (328)
Management of methylmalonic acidemia (MMA) with N‐carbamylglutamate: A case report from Italy
Molecular Genetics &Genomic Medicine, Volume 11, Issue 1, January 2023., 2023 We present the case report of a patient with frequently decompensated methylmalonic acidemia (MMA) who was successfully treated with carglumic acid (Carbaglu®, CA). The efficacy and safety of long‐term CA in the management of MMA have been confirmed in a prospective, randomized controlled trial and our report provides additional real‐world evidence on ...
Flavia Tubili +3 more
wiley +1 more source
AppQ: Warm-starting App Recommendation Based on View Graphs [PDF]
arXiv, 2021 Current app ranking and recommendation systems are mainly based on user-generated information, e.g., number of downloads and ratings. However, new apps often have few (or even no) user feedback, suffering from the classic cold-start problem. How to quickly identify and then recommend new apps of high quality is a challenging issue.
arxiv
Using reported pathogenic variants to identify therapeutic opportunities for genetic diseases
Molecular Genetics &Genomic Medicine, Volume 11, Issue 1, January 2023., 2023 The increase in size of publicly available variant annotation and Mendelian disease databases have allowed for novel approaches to identify the likely direction of effect of genetic mutations. Specifically, we found a simple ratio of missense mutations is capable of identifying genes likely to cause disease through a gain‐of‐function mechanism ...
Andrew K. Ressler, David B. Goldstein
wiley +1 more source
Italian Journal of Pediatrics, 2018 Background Cobalamin C (cblC) defect is the most common inborn error of Vitamin B12 metabolism often causing severe neurological, renal, gastrointestinal and hematological symptoms.
Luciano De Simone +6 more
doaj +1 more source
Continuous Renal Replacement Therapy for Two Neonates With Hyperammonemia
Frontiers in Pediatrics, 2021 Objectives: This study aims to assess the feasibility of using hemofiltration for ammonia clearance in low body weight infants with an inborn error of metabolism.Design: A study of two cases.Setting: Quaternary pediatric hospital (Saint Louis Children's ...
Christopher Markham +6 more
doaj +1 more source
The protein cost of metabolic fluxes: prediction from enzymatic rate laws and cost minimization [PDF]
, 2016 Bacterial growth depends crucially on metabolic fluxes, which are limited by the cell's capacity to maintain metabolic enzymes. The necessary enzyme amount per unit flux is a major determinant of metabolic strategies both in evolution and bioengineering.
arxiv +1 more source
Mass Conservation And Inference of Metabolic Networks from High-throughput Mass Spectrometry Data [PDF]
J Comput Biol, vol. 18 (2) pp. 147-54, 2011, 2010 We present a step towards the metabolome-wide computational inference of cellular metabolic reaction networks from metabolic profiling data, such as mass spectrometry. The reconstruction is based on identification of irreducible statistical interactions among the metabolite activities using the ARACNE reverse-engineering algorithm and on constraining ...
arxiv +1 more source
Carnitine Inborn Errors of Metabolism [PDF]
Molecules, 2019 Carnitine plays essential roles in intermediary metabolism. In non-vegetarians, most of carnitine sources (~75%) are obtained from diet whereas endogenous synthesis accounts for around 25%. Renal carnitine reabsorption along with dietary intake and endogenous production maintain carnitine homeostasis.
Mohammed Almannai +2 more
openaire +3 more sources
Frontiers in EndocrinologyIntroductionPineal cysts have long been considered a benign intracranial variation. However, in our clinical practice, it has been observed that some children with central precocious puberty (CPP) who have pineal cysts experience rapid progression in ...
Shuxian Yuan +6 more
doaj +1 more source
Muller Journal of Medical Sciences and Research, 2013 When the history of inborn errors of metabolism is written, the name that will be mentioned foremost is that of Sir Archibald Garrod, who through his pioneering work on Alkaptonuria laid a solid foundation for this evolving specialty of medicine in the ...
K Varadaraj Shenoy, P Thara, M Sharmila
doaj +1 more source