Results 11 to 20 of about 501,910 (264)
This abstract provides an overview of metachromatic leukodystrophy (MLD), an autosomal recessive disorder stemming from arylsulfatase A deficiency. MLD leads to cerebroside sulfate accumulation, causing central and peripheral demyelination.
Shailendra Katwal, MD +4 more
doaj +1 more source
Two clinical cases of glutaric aciduria type I in the Republic of Bashkortostan
Glutaric aciduria type I is an autosomal recessive disease caused by mutations in the GCDH gene, which encodes the glutaryl-CoA-dehydrogenase enzyme. A lack of this enzyme leads to the accumulation of glutaric and 3-OH-glutaric (3-hydroxyglutaric) acids ...
Elena V. Saifullina +6 more
doaj +1 more source
Skeletal muscle disorders may result in release of muscle enzymes into the circulation and give increased serum enzyme activity. A variety of enzymes routinely determined in the clinical laboratory may be elevated, but creatine kinase is the enzyme ...
M. Plebani
doaj +1 more source
Detection of Clostridium perfringens alpha toxin gene in lambs by loop mediated isothermal amplification [PDF]
Aim: The loop mediated isothermal amplification (LAMP) was standardized for rapid detection of Clostridium perfringens. Materials and Methods: A total of 120 fecal samples were collected from enterotoxemia suspected lambs were used for screening of C ...
B. Radhika +2 more
doaj +1 more source
Objective To evaluate the performance of enzyme-linked immunosorbent assay and indirect immunofluorescence methods for the detection of antineutrophil cytoplasmic antibodies in a routine clinical laboratory setting. Methods A total of 227 samples were
Julia Miranda Menezes +4 more
doaj +2 more sources
Background. BLEIA ™ “EIKEN” Helicobacter pylori antigen (B[EIA]) is based on the bioluminescent enzyme immunoassay (BLEIA) method that was newly developed with high sensitivity in detecting Helicobacter pylori (H. pylori) antigen in feces. Methods. In the project for H.
Toshihiko Kakiuchi +3 more
openaire +3 more sources
This study aimed to evaluate the clinical safety and validate the radiomitigative effect of KMRC011, against radiation-induced oral mucositis in beagle dogs.
Jaeeun Ko +9 more
doaj +1 more source
Visceral Angioedema Induced by Angiotensin Converting Enzyme Inhibitor: Case Report
Introduction: Intestinal angioedema is a rare adverse effect of angiotensin converting enzyme inhibitors. Clinical case: A 42-year old woman presented to the Emergency Department complaining of diffuse abdominal pain, predominantly in the right quadrants,
Beatriz Frutuoso +5 more
doaj +1 more source
Autoimmune encephalitis (AE) is a condition of severe brain inflammation with a complex differential diagnosis. The identification of a specific neuronal antibody (NA) is not mandatory to diagnose AE.
Giovanni Falcicchio +6 more
doaj +1 more source
A single strain of Mycobacterium abscessus subsp. bolletii, characterised by a particular rpoB sequevar and two highly related pulsed field gel electrophoresis patterns has been responsible for a nationwide outbreak of surgical infections in Brazil since
Cristianne Kayoko Matsumoto +8 more
doaj +1 more source

