Results 41 to 50 of about 148,305 (130)
Annals of Neurology, Volume 96, Issue 6, Page 1209-1224, December 2024.Objective Mitochondrial DNA (mtDNA) depletion/deletions syndrome (MDDS) comprises a group of diseases caused by primary autosomal defects of mtDNA maintenance. Our objective was to study the etiology of MDDS in 4 patients who lack pathogenic variants in known genetic causes.
Agustin Hidalgo‐Gutierrez +27 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
, 1971 A Mark II prototype uv analyzer was used to study urinary uv-absorbing compounds in eight patients with gout, one patient with partial deficiency of adenine phosphoribosyltransferase, three patients with the Lesch— Nyhan syndrome, two patients with ...
T. Beardmore, W. Kelley
semanticscholar +1 more source
Journal of Inherited Metabolic Disease, Volume 47, Issue 4, Page 598-623, July 2024.Abstract Sulfite intoxication is the hallmark of four ultrarare disorders that are caused by impaired sulfite oxidase activity due to genetic defects in the synthesis of the molybdenum cofactor or of the apoenzyme sulfite oxidase. Delays on the diagnosis of these disorders are common and have been caused by their unspecific presentation of acute ...
Bernd C. Schwahn +11 more
wiley +1 more source
Metabolomic analyses of Drosophila models for human renal disease [PDF]
, 2012 Inborn errors of metabolism (IEMs) constitute a major class of genetic disorder. Most of IEMs are transmitted recessively, so consanguinity has a huge impact on disease prevalence, particularly in societies like Saudi Arabia, where consanguineous ...
Hobani, Yahya Hasan
core +1 more source
Update of the scientific opinion on tetrabromobisphenol A (TBBPA) and its derivatives in food
EFSA Journal, Volume 22, Issue 7, July 2024.Abstract The European Commission asked EFSA to update its 2011 risk assessment on tetrabromobisphenol A (TBBPA) and five derivatives in food. Neurotoxicity and carcinogenicity were considered as the critical effects of TBBPA in rodent studies. The available evidence indicates that the carcinogenicity of TBBPA occurs via non‐genotoxic mechanisms. Taking
EFSA Panel on Contaminants in the Food Chain (CONTAM) +25 more
wiley +1 more source
Metabolomics of Mammalian and Cellular Models of Aging [PDF]
, 2016 Aging is often associated with impaired cognition and a progressive loss of organ function over time accompanied by an increased susceptibility for many disorders, including Alzheimer\u27s disease (AD), Parkinson\u27s disease (PD), heart disease ...
Duval, Nathan Gonzales
core +1 more source
Network-based confidence scoring system for genome-scale metabolic reconstructions [PDF]
arXiv, 2010 Reliability on complex biological networks reconstructions remains a concern. Although observations are getting more and more precise, the data collection process is yet error prone and the proofs display uneven certitude. In the case of metabolic networks, the currently employed confidence scoring system rates reactions according to a discretized ...
arxiv
Mapping an atlas of tissue-specific drosophila melanogaster metabolomes by high resolution mass spectrometry [PDF]
, 2013 Metabolomics can provide exciting insights into organismal function, but most work on simple models has focussed on the whole organism metabolome, so missing the contributions of individual tissues.
A Kamleh +47 more
core +3 more sources
Epilepsia Open, Volume 9, Issue 1, Page 424-431, February 2024.Abstract Focal cortical dysplasia (FCD) represents the most common cause of drug‐resistant epilepsy in adult and pediatric surgical series. However, genetic factors contributing to severe phenotypes of FCD remain unknown. We present a patient with an exceptionally rapid development of drug‐resistant epilepsy evolving in super‐refractory status ...
Barbora Straka +14 more
wiley +1 more source