摘要:
The present invention is related to methods for diagnosing mucopolysaccharidoses (“MPS”) and related diseases. This invention pertains to methods for identifying and quantitating biochemical markers (“biomarkers”) that are present in biological fluids or tissues of a patient having a MPS or related disorder. One aspect of the method comprises determining a target quantity of a target MPS biomarker oligosaccharide from a target biological sample taken from the target animal, and then comparing the target quantity to a reference quantity of a reference MPS biomarker oligosaccharide for the diagnosis, characterization, monitoring, and clinical management of MPS and related disease. This invention also describes a kit comprising a oligosaccharide derivatization solution; an acid solution; an internal standard; a solid phase extraction column; a solid phase extraction column wash solution; an oligosaccharide elution solution; and a set of instructions for using the kit to diagnose a MPS or related disease.
摘要:
A size standard, kit includes a size standard, method of defining a size standard and method of analysis using a size standard. The size standard is intended to include size standard elements which have a size greater than and/or less than and/or different from the components of a sample which are to be sized. This means that the same characteristic unit, such as a dye, can be used to label the component and the size standard. A further characteristic unit, from amongst a limited number of such characteristic units is liberated from use only on size standards for use on components. The method is therefore particularly useful in multiplex amplification of STRs.
摘要:
An exemplary embodiment of the present invention sets forth a system, method and computer program product which may include providing an online waiting room and gatekeeper for controlling access to users in a plurality of tiered classification standby lines, seeking access to an online event.
摘要:
A novel protein profiling method of testing for Lysosomal Storage Diseases (“LSD”) using discovered normalized lysosomal fingerprint patterns. The fingerprint patterns reveal the health of lysosomal organelles, specific LSD, and clinical severity Multiplexing bead technology for simultaneous screening of multiple LSD and normalizing measured enzyme activity or protein levels against other lysosomal proteins, enzymes, or enzyme activities. Compounds, reagents, and methods for identifying and quantifying multiple target enzymes and proteins.
摘要:
Methods for assaying a lysosomal enzyme activity present in a blood sample obtained from a patient. The method combines the blood or plasma sample in a buffer with at least one binding reagent capable of reacting with alpha-glucosidase present in the blood sample to form an enzyme reagent complex. The lysosomal enzyme activity present in the blood sample is then determined from the enzyme reagent complex formed and compared to a mean level of alpha-glucosidase in a control population of individuals not having a lysosomal storage disease.
摘要:
The present invention relates generally to mammalian α-N-acetyglucosaminidase and to genetic sequences encoding same and to their use in the investigation, diagnosis and treatment of subjects suspected of or suffering from α-N-acetyglucosaminidase deficiency.
摘要:
The invention provides a marking system, markers and methods of use of such marking systems and markers which enable unique marking of articles and subsequent detection of that marking. In particular the invention provides a marking system, the marking system comprising a plurality of different DNA fragment types, each of the plurality of different DNA fragment types comprising a plurality of different length DNA fragments and a method in which a sample of the DNA fragment type is taken, amplified and analysed to determine the identity of the marker for an article.
摘要:
The invention provides a marking system, markers and methods of use of such marking systems and markers which enable unique marking of articles and subsequent detection of that marking. In particular the invention provides a marking system, the marking system comprising a plurality of different DNA fragment types, each of the plurality of different DNA fragment types comprising a plurality of different length DNA fragments and a method in which a sample of the DNA fragment type is taken, amplified and analysed to determine the identity of the marker for an article.
摘要:
A method of ascertaining the LSD (Lysosomal storage disorder) status of an individual comprising taking a tissue or body fluid sample from the individual and estimating a level in the sample of each of three or more compound indicators. The indicators reflect the level of respectively each of three or more lipid containing storage associated compounds. The levels are used to calculate an LSD index number which is then compared with a standard to provide an assessment of the LSD status of the individual. The indicator compounds are conveniently phospholipids, glycolipids or lipopolysaccharide species measured by mass spectrometry. The method may be used to ascertain the nature of the disorder from which the individual stuffers, and its severity. It may also be used to monitor the progress of treatment and to ascertain the prospects of an individual contracting an LSD by providing a subclinical indicators for the condition.
摘要:
Multiplexing bead technology is used for simultaneous screening of multiple LSD and normalizing measured enzyme activity or protein levels against other lysosomal proteins, enzymes, or enzyme activities. Diagnostic compositions include microspheres conjugated to purified antibodies that specifically bind LSD target antigens: saposin, LAMP-1, α-iduronidase, α-glucosidase, β-glucosidase, 2-sulphatase, 4-sulphatase, α-galactosidase, sphingomyelinase, 3-sulphatase or sulphamidase. The target antigens are naturally present in biological fluids or tissues of either LSD or non-LSD patients.