BIOMAT Database Logo BIOMAT Database Logo

Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay. 1970

J S O'Brien, and S Okada, and A Chen, and D L Fillerup

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007700 Kinetics The rate dynamics in chemical or physical systems.
D008064 Lipidoses Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving lysosomal enzymes required for lipid breakdown. They are classified either by the enzyme defect or by the type of lipid involved. Lipidosis,Lipoidosis
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009083 Mucopolysaccharidoses Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency. Mucopolysaccharidosis
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D003920 Diabetes Mellitus A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE.
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis

Related Publications

J S O'Brien, and S Okada, and A Chen, and D L Fillerup
Rapid test for the detection of Tay-Sachs disease heterozygotes and homozygotes by serum hexosaminidase assay.
February 1973, Clinica chimica acta; international journal of clinical chemistry,
J S O'Brien, and S Okada, and A Chen, and D L Fillerup
Detection of Tay-Sachs disease heterozygotes by assay of hexosaminidase A in serum and leukocytes.
April 1971, The Journal of pediatrics,
J S O'Brien, and S Okada, and A Chen, and D L Fillerup
Tay-Sachs carrier detection by mechanized serum hexosaminidase assay.
June 1974, Clinica chimica acta; international journal of clinical chemistry,
J S O'Brien, and S Okada, and A Chen, and D L Fillerup
Automated determination of serum hexosaminidase A by pH inactivation for detection of Tay-Sachs disease heterozygotes.
May 1974, Clinical chemistry,
J S O'Brien, and S Okada, and A Chen, and D L Fillerup
Detection of GM2-gangliosidosis (Tay-Sachs and Sandhoff disease) gene carriers by serum hexosaminidase assay.
November 1976, Clinica chimica acta; international journal of clinical chemistry,
J S O'Brien, and S Okada, and A Chen, and D L Fillerup
Hexosaminidase C in brain affected by Tay-Sachs Disease.
February 1981, The Tohoku journal of experimental medicine,
J S O'Brien, and S Okada, and A Chen, and D L Fillerup
Hexosaminidase C in Tay-Sachs and Sandhoff disease.
May 1975, Biochimica et biophysica acta,
J S O'Brien, and S Okada, and A Chen, and D L Fillerup
Testing for Tay-Sachs heterozygotes.
August 1973, Lancet (London, England),
J S O'Brien, and S Okada, and A Chen, and D L Fillerup
[Tay-Sachs disease (beta-hexosaminidase alpha-chain deficiency)].
January 1998, Ryoikibetsu shokogun shirizu,
J S O'Brien, and S Okada, and A Chen, and D L Fillerup
Detection of Tay-Sachs disease carriers among individuals with thermolabile hexosaminidase B.
February 1994, European journal of clinical chemistry and clinical biochemistry : journal of the Forum of European Clinical Chemistry Societies,
Copied contents to your clipboard!