Results 11 to 20 of about 833,552 (313)
Journal of Diabetes Investigation, 2019 Anti‐glutamic acid decarboxylase antibody (GADA) is an important islet cell‐associated autoantibody for the diagnosis of autoimmune type 1 diabetes mellitus.
Yoichi Oikawa +4 more
doaj +1 more source
Evaluation of two laboratory methods for the diagnosis of hydatidosis
Saúde & Tecnologia, 2015 Hydatidosis, also known as hydatid cyst, is caused by the larval stages of the parasite Echinococcus granulosus. Its diagnostic relies mainly on clinical findings, epidemiology and imaging techniques supported by serological tests.
Generosa Batista +4 more
doaj +1 more source
AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease [PDF]
, 2017 Pompe disease (PD) is a metabolic myopathy due to acid alpha-glucosidase deficiency and characterized by extensive glycogen storage and impaired autophagy.
Alvino, Filomena Grazia +13 more
core +1 more source
Macro-Aspartate Aminotransferase and Its Laboratory Detection: A Case Report
Acta Medica Lituanica, 2023 Background. Increased enzyme activity in human blood serum is usually associated with the existence of disease. On the other hand, enzyme activity can also be elevated in the presence of benign conditions, such as macro-enzymes. Macro-enzymes could lead
Goda Aleknavičiūtė-Valienė +3 more
doaj +3 more sources
Two clinical cases of glutaric aciduria type I in the Republic of Bashkortostan
Анналы клинической и экспериментальной неврологии, 2020 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
Radiology Case Reports, 2023 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
Reumatismo, 2001 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
Individualized Angiotensin‐Converting Enzyme (ACE)‐Inhibitor Therapy in Stable Coronary Artery Disease Based on Clinical and Pharmacogenetic Determinants: The PERindopril GENEtic (PERGENE) Risk Model [PDF]
, 2016 Patients with stable coronary artery disease (CAD) constitute a heterogeneous group in which the treatment benefits by angiotensin-converting enzyme (ACE)-inhibitor therapy vary between individuals.
Akkerhuis, KM +14 more
core +1 more source
Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study. [PDF]
, 2015 The primary treatment outcomes of a phase 2, randomized, double-blind, pilot study evaluating safety, physiological, and pharmacological effects of elosulfase alfa in patients with Morquio A syndrome are herewith presented.
Berger, Kenneth I +14 more
core +1 more source
Einstein (São Paulo), 2020 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