Results 101 to 110 of about 26,062 (264)
CNS Neuroscience &Therapeutics, Volume 31, Issue 1, January 2025.Compared to control subjects without neurological diseases, distinct metabolic profiles were evident in the cerebrospinal fluid of patients with autoimmune encephalitis (AE) diagnosed by fluorescence pattern in both cell‐based assays and tissue‐based assays, which helped to elucidate the pathophysiology of AE.
Xiaolong Li +7 more
wiley +1 more source
Neuroradiological findings in maple syrup urine disease
Journal of Pediatric Neurosciences, 2013 Maple syrup urine disease is a rare inborn error of amino acid metabolism involving catabolic pathway of the branched-chain amino acids. This disease, if left untreated, may cause damage to the brain and may even cause death. These patients typically present with distinctive maple syrup odour of sweat and urine. Patients typically present with skin and
Venkatraman Indiran +1 more
openaire +4 more sources
Journal of Intellectual Disability Research, Volume 69, Issue 1, Page 1-29, January 2025.Abstract Background Collaboration with healthcare professionals is crucial in arranging necessary lifelong support for people with intellectual disabilities. However, family members often face challenges when collaborating with healthcare professionals.
K. van Beurden +3 more
wiley +1 more source
Improvement in quantification of urine components: Alternate technique [PDF]
arXiv, 2014 Urea and creatinine are two important diagnostic components of urine. The study of creatinine in liquid phase is difficult due to its feeble concentration in urine. To bring down the detection limit, Raman spectroscopy of dried urine samples was employed.
arxiv
Clinical Transplantation, 2019 Domino liver transplantation (DLT) using liver allografts from patients with metabolic disorders enhances organ utilization. Short‐ and long‐term course and outcome of these patients can impact the decision to offer this procedure to patients, especially
N. Çelik +12 more
semanticscholar +1 more source
On Population Kinetics of an Aging Society: Aging and Scurvy [PDF]
arXiv, 2006 Evidence from skeletal remains and pictorial records for the past several millennia established that humans have had a very inadequate ascorbic acid intake and commonly exhibited signs of frank scurvy, as well as the invisible signs of subclinical scurvy (absence of AA in scorbutic urine is universal).
arxiv
Molecular genetics of maple syrup urine disease in the Turkish population
The Turkish Journal of Pediatrics, 2009 In maple syrup urine disease (MSUD), disease-causing mutations can affect the BCKDHA, BCKDHB or DBT genes encoding for the E1alpha, E1beta and E2 subunits of the multienzyme branched-chain alpha-keto acid dehydrogenase (BCKDH) complex.
Kerstin Gorzelany +7 more
doaj
Visual Analytics of Image-Centric Cohort Studies in Epidemiology [PDF]
arXiv, 2015 Epidemiology characterizes the influence of causes to disease and health conditions of defined populations. Cohort studies are population-based studies involving usually large numbers of randomly selected individuals and comprising numerous attributes, ranging from self-reported interview data to results from various medical examinations, e.g., blood ...
arxiv