Open AccessJournal Article
Enzymatic diagnosis of Morquio A syndrome with a new fluorimetric substrate.
TLDR
The synthetic 4-methylumbelliferyl-galactoside 6-sulphate (4Mu-Gal-6S) proved highly effective and sensitive in the postnatal, prenatal and retrospective diagnosis of Morquio A syndrome as compared to the commonly used radiolabelled substrate.About:
This article is published in Chinese Medical Sciences Journal.The article was published on 1991-03-01 and is currently open access. It has received 3 citations till now.read more
Citations
More filters
Journal ArticleDOI
Progressive neurologic and somatic disease in a novel mouse model of human mucopolysaccharidosis type IIIC
Sara Marcó,Anna Pujol,Carles Roca,Sandra Motas,Albert Ribera,Miguel Garcia,Maria Molas,Pilar Villacampa,Cristian S. Melia,Victor Sanchez,Xavier Sanchez,Joan Bertolin,Jesús Ruberte,Virginia Haurigot,Fatima Bosch +14 more
TL;DR: A new mouse model of MPSIIIC recapitulates the human disease, with progressive CNS and somatic lysosomal pathology, and shortened lifespan, which provides a useful tool for the study of disease physiopathology and the development of new therapeutic approaches.
Journal ArticleDOI
N-acetylgalactosamine-6-sulfatase protein detection in MPS IVA patient and unaffected control samples.
TL;DR: The immune assay described here had the capacity to accurately measure the amount of GALNS protein in various biological samples, providing the basis of an assay that could be further developed to enable newborn and high-risk population screening for MPS IVA patients.
Journal ArticleDOI
Renewable fluorometric enzyme immunosensing system using prochlorperazine as the substrate for horseradish peroxidase for the determination of transferrin
Zhi-Zhang Li,Fu-Chun Gong +1 more
TL;DR: A renewable fluorometric enzyme immunosensing system using prochlorperazine (PCP) as the substrate for horseradish peroxidase (HRP) has been developed for the determination of transferrin in serum samples with satisfactory results.
Related Papers (5)
An improved procedure for diagnosis of Gaucher disease using cultured skin fibroblasts and the chromogenic substrate, 2-hexadecanoylamino-4-nitrophenyl-β-d-glucopyranoside
R.J. Barns,A.E. Clague +1 more