| D007118 |
Immunoassay |
A technique using antibodies for identifying or quantifying a substance. Usually the substance being studied serves as antigen both in antibody production and in measurement of antibody by the test substance. |
Immunochromatographic Assay,Assay, Immunochromatographic,Assays, Immunochromatographic,Immunoassays,Immunochromatographic Assays |
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| D007231 |
Infant, Newborn |
An infant during the first 28 days after birth. |
Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants |
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| D001800 |
Blood Specimen Collection |
The taking of a blood sample to determine its character as a whole, to identify levels of its component cells, chemicals, gases, or other constituents, to perform pathological examination, etc. |
Blood Specimen Collections,Collection, Blood Specimen,Collections, Blood Specimen,Specimen Collection, Blood,Specimen Collections, Blood |
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| D004796 |
Clinical Enzyme Tests |
Analyses for a specific enzyme activity, or of the level of a specific enzyme that is used to assess health and disease risk, for early detection of disease or disease prediction, diagnosis, and change in disease status. |
Enzyme Tests, Clinical,Clinical Enzyme Test,Enzyme Test, Clinical,Test, Clinical Enzyme,Tests, Clinical Enzyme |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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| D000328 |
Adult |
A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. |
Adults |
|
| D000519 |
alpha-Galactosidase |
An enzyme that catalyzes the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-galactosides including galactose oligosaccharides, galactomannans, and galactolipids. |
Beano,Melibiase,alpha-D-Galactopyranosidase,alpha-D-Galactosidase,alpha-Galactisidase,alpha-Galactosidase A,alpha-Galactosidases,alpha D Galactopyranosidase,alpha D Galactosidase,alpha Galactisidase,alpha Galactosidase,alpha Galactosidase A,alpha Galactosidases |
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| D000795 |
Fabry Disease |
An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders. |
Anderson-Fabry Disease,Angiokeratoma Corporis Diffusum,Angiokeratoma Diffuse,Angiokeratoma, Diffuse,Ceramide Trihexosidase Deficiency,Fabry's Disease,GLA Deficiency,Hereditary Dystopic Lipidosis,alpha-Galactosidase A Deficiency,alpha-Galactosidase A Deficiency Disease,Anderson Fabry Disease,Deficiency, Ceramide Trihexosidase,Deficiency, GLA,Deficiency, alpha-Galactosidase A,Diffuse Angiokeratoma,Lipidosis, Hereditary Dystopic,alpha Galactosidase A Deficiency,alpha Galactosidase A Deficiency Disease |
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| D012680 |
Sensitivity and Specificity |
Binary classification measures to assess test results. Sensitivity or recall rate is the proportion of true positives. Specificity is the probability of correctly determining the absence of a condition. (From Last, Dictionary of Epidemiology, 2d ed) |
Specificity,Sensitivity,Specificity and Sensitivity |
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| D015997 |
Neonatal Screening |
The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates (INFANT, NEWBORN) from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic. |
Infant, Newborn, Screening,Newborn Infant Screening,Newborn Screening,Neonatal Screenings,Newborn Infant Screenings,Newborn Screenings,Screening, Neonatal,Screening, Newborn,Screening, Newborn Infant,Screenings, Neonatal,Screenings, Newborn,Screenings, Newborn Infant |
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