Results 71 to 80 of about 828,533 (299)
INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights
ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano +27 more
wiley +1 more source
ABSTRACT Objective Alexander disease (AxD) is a severe neurodegenerative disorder caused by gain‐of‐function mutations in the gene for GFAP, which lead to protein aggregation and a primary astrocytopathy. Symptoms vary, but failure to thrive (FTT) and frequent emesis are common and cause significant morbidity. Here we investigate GDF15, a member of the
Tracy L. Hagemann +6 more
wiley +1 more source
ABSTRACT Background There is growing recognition of the potential of plasma proteomics for Alzheimer's Disease (AD) risk assessment and disease characterization. However, differences between proteomics platforms introduce uncertainties regarding cross‐platform applicability.
Manyue Hu +9 more
wiley +1 more source
BackgroundPhthalates are ubiquitously used in a variety of products and have an adverse effect on folliculogenesis. However, previous epidemiological studies on the associations between phthalate exposure and antral follicle count (AFC) produced ...
Yangcheng Yao +6 more
doaj +1 more source
ABSTRACT Aims This study aimed to explore the relationship between stress‐induced hyperglycemia (SIH) and in‐hospital medical complications in patients with acute stroke. Methods We enrolled 865,765 patients with acute stroke from the Chinese Stroke Center Alliance cohort.
Xintong Song +6 more
wiley +1 more source
Preliminary Estimation of Deoxynivalenol Excretion through a 24 h Pilot Study
A duplicate diet study was designed to explore the occurrence of 15 Fusarium mycotoxins in the 24 h-diet consumed by one volunteer as well as the levels of mycotoxins in his 24 h-collected urine.
Yelko Rodríguez-Carrasco +3 more
doaj +1 more source
The biuret method of estimating albumin and globulin in serum and urine [PDF]
Joseph Fine
openalex +1 more source
Objective Systemic sclerosis (SSc) is a rare autoimmune disease characterized by tissue fibrosis, vasculopathy, and immune dysregulation. Our objectives were to quantify the overall and site‐specific cancer risks in patients with SSc compared to the general population, examine temporal trends in cancer incidence following SSc diagnosis, and explore ...
Jihyun Na +4 more
wiley +1 more source

