Results 101 to 110 of about 255,253 (296)
Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (
Mariana Pena Costa +23 more
wiley +1 more source
Angewandte Chemie, EarlyView.Current interest in artificial cell research underscores its potential to deepen our understanding of life's fundamental processes. This review highlights advances in bottom‐up coacervate‐based artificial cell engineering via combined integration of cellular hallmarks.
Arjan Hazegh Nikroo +3 more
wiley +2 more sources
JIMD ReportsAutosomal dominant Fanconi syndrome due to a GATM variant (GATM‐FS), causes accumulation of misfolded arginine‐glycine amidinotransferase (AGAT) in proximal renal tubules leading to cellular injury. GATM‐FS presents during childhood and progresses to end‐
Ignacio Portales‐Castillo +15 more
doaj +1 more source
Neuroprotective Effect of Oral Administration of Creatine against 6-Hydroxydopamine Toxicity in Experimental Model of Parkinson's Disease [PDF]
Journal of Kerman University of Medical Sciences, 2015 Background & Aims: With regard to the neuroprotective effect of creatine in some neurological disorders like cerebral ischemia, this study was conducted to evaluate the effect of creatine in an experimental model of Parkinson’s disease (PD).
Reza Sedaghat +2 more
doaj
Molecules, 2019 The growing demand for whey protein supplements has made them the target of adulteration with cheap substances. Therefore, Raman spectroscopy in tandem with chemometrics was proposed to simultaneously detect and quantify three common adulterants ...
Xianzhi Jiao +5 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The key diagnostic criterion for hypertrophic cardiomyopathy is the presence of otherwise unexplained hypertrophy. Current definitions of HCM rely on specific thresholds to establish a diagnosis, while guideline directed risk stratification algorithms take its magnitude into consideration.
Thomas D. Gossios +9 more
wiley +1 more source
High school athletes and over the counter performance enhancing drugs : an inside look and website [PDF]
, 2011 This study will take a look into four young male athlete’s lives and if they use over the counter performance enhancing drugs. With the recent debates on steroid use in major sports, I felt it was necessary to see how teens are using the products that ...
Albritton, Steven C.
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m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr +5 more
wiley +1 more source
Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier +2 more
wiley +1 more source
Changes in brain metabolites measured with magnetic resonance spectroscopy in antidepressant responders with comorbid major depression and posttraumatic stress disorder [Promjene razina moždanih metabolita mjerenih magnetskom rezonantnom spektroskopijom u ispitanika s komorbiditetom depresije i posttraumatskog stresnog poremećaja koji su odgovorili na antidepresivno liječenje] [PDF]
, 2011 In a present pilot study, performed on 11 subjects, we studied proton magnetic resonance spectroscopy (1H-MRS) changes in early to intermediate (3-6 weeks) responders to antidepressant treatment with selective serotonin reuptake inhibitors (SSRIs).
Bajs, Maja +6 more
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