Trusted Resources: Education
Scientific literature and patient education texts
Activity of Daily Living in Mucopolysaccharidosis IVA patients: Evaluation of Therapeutic Efficacy
source: Molecular genetics & genomic medicine
year: 2021
authors: Chen H,Khan S,Celik B,Suzuki Y,Ago Y,Tomatsu S
summary/abstract:Mucopolysaccharidosis IVA (MPS IVA, also called Morquio A syndrome) is caused by a deficiency of N-acetylglucosamine-6-sulfate sulfatase (GALNS) and results in skeletal dysplasia symptoms such as short stature and abnormal gait. Treatments include enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT), but the effects are limited depending on the age of initiation and clinical phenotype. Thus, this study aims to assess the effects of treatments on MPS IVA patients compared to untreated MPS IVA patients and an age-matched control group.
organization: University of Delaware, Newark, DE, USA.DOI: 10.1002/mgg3.1806
read more
BookmarkRelated Content
-
Elosulfase Alfa in the Treatment of Mucopolysaccharidosis Type IVA: Insights From the First Managed Access AgreementManaged access agreements provide a cruc...
-
The Ryan FoundationChildren with rare diseases are racing t...
-
Daily Living With MPS and Related DiseasesDealing with your child’s diagnosis wi...
-
Sanfilippo Children’s Foundation – FacebookSanfilippo Children's Foundation is a no...
-
A 22 Year Old Rotherham Man, no Longer Walk Up His StairsA Yorkshire community has launched a fun...
-
Extraordinary Experiences ProgramProgram provides grants of up to $1000 t...
-
Molecular Characterization of Mucopolysaccharidosis Type IVA Patients in the Andean Region of ColombiaColombia has a high prevalence of mucopo...
Powered by
