Results 31 to 40 of about 862,336 (259)
Fucosidosis: clinical and molecular findings of Turkish patients
The Turkish Journal of Pediatrics, 2022 Background. Fucosidosis is a rare, autosomal recessive lysosomal storage disease caused by alpha L- fucosidase enzyme deficiency in all tissues. Here, we identify a patient with a novel homozygous pathogenic variant and atypical clinical findings ...
Merve Emecen Şanlı, Serap Uysal
doaj +1 more source
FEBS Letters, EarlyView.The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li +2 more
wiley +1 more source
Inpatients’ medical prescription errors [PDF]
Einstein (São Paulo), 2009 Objective: To identify and quantify the most frequent prescription errors in inpatients’ medical prescriptions. Methods: A survey of prescription errors was performed in the inpatients’ medical prescriptions, from July 2008 to May 2009 for eight hours a ...
Aline Melo Santos Silva
doaj
Refractive Errors Among Medical Students
Nepalese Medical Journal, 2018 Introduction: Refractive errors are becoming a problem in many societies, with prevalence rates of myopia in many Asian urban countries reaching epidemic proportions.
Poojyashree Karki +3 more
doaj +1 more source
FEBS Letters, EarlyView.Bone metastasis in prostate cancer (PCa) patients is a clinical hurdle due to the poor understanding of the supportive bone microenvironment. Here, we identify stearoyl‐CoA desaturase (SCD) as a tumor‐promoting enzyme and potential therapeutic target in bone metastatic PCa.
Alexis Wilson +7 more
wiley +1 more source
مجله دانشگاه علوم پزشکی گرگان, 2016 Color vision deficiency (CVD) is a defect of vision with disability to distinguish colors. Color vision deficiency can be divided into the two categories, congenital and acquired.
M Mahjoob M +2 more
doaj
Disclosing Medical Errors to Patients
MedEdPORTAL, 2010 This is a standardized patient case that has been used to assess the communication skills of radiology residents when disclosing a medical error to a patient. In the case, a 50-year-old woman brings her young adult son for a CT scan.
Win May, Beverly Wood
doaj +1 more source
FEBS Letters, EarlyView.We reconstituted Synechocystis glycogen synthesis in vitro from purified enzymes and showed that two GlgA isoenzymes produce glycogen with different architectures: GlgA1 yields denser, highly branched glycogen, whereas GlgA2 synthesizes longer, less‐branched chains.
Kenric Lee +3 more
wiley +1 more source
FEBS Letters, EarlyView.We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley +1 more source
FEBS Letters, EarlyView.In this study, we found that human cervical‐derived adipocytes maintain intracellular iron level by regulating the expression of iron transport‐related proteins during adrenergic stimulation. Melanotransferrin is predicted to interact with transferrin receptor 1 based on in silico analysis.
Rahaf Alrifai +9 more
wiley +1 more source