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
-
Cure Sanfilippo Foundation – InstagramCure Sanfilippo Foundation is a non prof...
-
Mucopolysaccharidosis Type VI – An Updated Overview of the DiseaseMucopolysaccharidosis type VI, or Marote...
-
H4B Boston’s Living Rooms of RareIn celebration of Rare Disease Day, H4B ...
-
Cara O’Neill, MD, FAAPDr. Cara O’Neill, FAAP, was a practici...
-
Lysosomal Storage Disorders: Clinical, Biochemical and Molecular Profile From Rare Disease Centre, IndiaLysosomal storage disorders (LSDs) are a...
-
Believe in G Golf TournamentGianna, was diagnosed with Sanfilippo Sy...
-
A Guide to Understanding MPS IV (Morquio Syndrome)Mucopolysaccharidosis IV (MPS IV) is a r...
Powered by
