Results 81 to 90 of about 132,121 (307)
Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan +3 more
wiley +1 more source
DETECTION OF MEASLES AND RUBELLA ANTIBODIES IN DRIED BLOOD SPOTS
Problems of Infectious and Parasitic Diseases, 2018 This study aimed to determine the frequency of detection of measles and rubella antibodies in dried blood spots in Bulgaria. Material and Methods: Two types of clinical material, serum samples and dried blood spots (DBS), were tested from a total of ...
Stefka Krumova +5 more
doaj +1 more source
JIMD Reports, 2023 Measurement of plasma and dried blood spot (DBS) phenylalanine (Phe) is key to monitoring patients with phenylketonuria (PKU). The relationship between plasma and capillary DBS Phe concentrations has been investigated previously, however, differences in ...
Rachel S. Carling +8 more
doaj +1 more source
PCR-Oligonucleotide Ligation Assay from Dried Blood Spots [PDF]
Clinical Chemistry, 1999 PCR followed by oligonucleotide ligation assay (PCR-OLA) is a molecular method that can be used for the detection of nucleotide sequence variants. During the past 10 years it has been used successfully for numerous diagnostic applications (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15).
E L, Romppanen, I, Mononen
openaire +2 more sources
Arthritis Care &Research, EarlyView.Objective Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.
Anahita Deboo +88 more
wiley +1 more source
Dried blood spots analysis for targeted and non-targeted exposomics
Environment InternationalDried blood spots (DBS) are an established sample type, widely used in newborn screening programs for monitoring metabolic diseases. Their minimally invasive nature offers great promise for assessing chemical exposures, particularly during early life ...
Vinicius Verri Hernandes +3 more
doaj +1 more source
Improved Dried Blood Spot-Based Metabolomics: A Targeted, Broad-Spectrum, Single-Injection Method
Metabolites, 2020 Dried blood spots (DBS) have proven to be a powerful sampling and storage method for newborn screening and many other applications. However, DBS methods have not yet been optimized for broad-spectrum targeted metabolomic analysis.
Kefeng Li +4 more
doaj +1 more source
Lysossomal acid lipase activity in dried blood spots - preliminar results [PDF]
, 2017 Lysosomal storage diseases (LSDs) are a group of heterogeneous and multisystemic disorders caused by defects in enzymes responsible for the intralysosomal degradation of particular compounds. One of them is Lysosomal Acid Lipase Deficiency (LALD) that is
Alves, Sandra +2 more
core
Arthritis Care &Research, EarlyView.Objective The goal was to assess the diagnostic performance of three novel autoantibodies (NA) for Sjögren disease (SjD) by comparing NA prevalence in patients with SjD, other autoimmune rheumatic diseases (ARDs), nonspecific chronic sialadenitis (CS), and controls.
Chadwick R. Johr +5 more
wiley +1 more source
, 2003 Carp respond to cold by the upregulated expression of Delta9-acyl-CoA desaturase. Here we report the cloning and characterization of Cds2, a second Delta9-acyl CoA-desaturase expressed in carp liver.
Caddick, MX +5 more
core +1 more source