Prenatal diagnosis of morquio disease type a using a simple fluorometric enzyme assay
نویسندگان
چکیده
منابع مشابه
Prenatal diagnosis of Morquio disease type A using a simple fluorometric enzyme assay.
A new fluorogenic substrate, 4 methylumbelliferyl beta-D-6-sulphogalactoside, was used for the assay of galactose-6-sulphate sulphatase activity in chorionic villi, cultured villus cells, and amniocytes. The fluorometric assay is much more convenient than the conventional assay using radiolabelled, sulphated oligosaccharides. Both types of substrate were used in the prenatal diagnosis of three ...
متن کاملDevelopment of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots
Mucopolysaccharidosis type IVA or Morquio type-A disease is a hereditary lysosomal storage disorder caused by deficient activity of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). The disease is caused by lysosomal accumulation of unprocessed glycosaminoglycans (GAGs) that manifests with severe to mild skeletal and cardiopulmonary abnormalities. We have developed a modif...
متن کاملPrenatal diagnosis of Pompe disease: enzyme assay or molecular testing?
We report two cases which illustrate that enzyme assay results alone, may at times be equivocal and inconclusive in the prenatal diagnosis of storage disorders like Pompe disease and therefore, if the probands mutation is known, targeted mutation analysis of fetal DNA is the most reliable method for fetal evaluation.
متن کامل[Morquio disease (Mucopolysaccharidosis type IV-A): clinical aspects, diagnosis and new treatment with enzyme replacement therapy].
Mucopolysaccharidosis type IV-A (Morquio A disease) is an autosomal recessive lysosomal storage disease caused by mutations in the gene encoding the N-acetylgalactosamine-6-sulfate sulfatase, that results in impaired catabolism of two glycosaminoglycans, chondroitin-6-sulfate and keratan sulfate. Clinical presentations reflect a spectrum of progression from a severe phenotype to an attenuated e...
متن کاملDEVELOPMENT OF A SIMPLE AND SENSITIVE ENZYME- LINKED IMMUNOSORBENT ASSAY (ELISA) FOR CLINICAL MEASUREMENT OF TESTOSTERONE USING PENICILLINASE AS LABEL
An enzyme-linked immunosorbent assay using a homologous combination of antiserum raised against testosterone-3-0-carboxymethyloxime-bovine serum albumin (T-3-0-CMO-BSA ) and penicillinase-labelled T-3-0-CMO was developed. This assay was utilized to measure testosterone in serum samples of male and female subjects. The sensitivity of the assay is 50pg/well and the antibody developed crossrea...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Prenatal Diagnosis
سال: 1990
ISSN: 0197-3851,1097-0223
DOI: 10.1002/pd.1970100204