The use of stem cells has enabled the successful generation of simple organs. However,
anatomically complicated organs such as the kidney have proven more refractory to stem-cell-…

This open-label clinical study enrolled 10 adults with attenuated Mucopolysaccharidosis II
and advanced disease under the direction of the Japan Society for Research on …

Pabinafusp alfa (JR-141) is a novel enzyme drug that crosses the blood-brain barrier by
transcytosis via transferrin receptors. In order to establish its efficacy and safety, a multicenter, …

Hunter syndrome (mucopolysaccharidosis II [MPS II]), a deficiency of iduronate-2-sulfatase (IDS),
causes an accumulation of glycosaminoglycans, giving rise to multiple systemic and …

Cerebellar and/or vermis atrophy is recognized in various types of childhood disorders with
clinical and genetic heterogeneity. Although careful evaluation of clinical features and …

Introduction Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal
recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-…

Background : Asthma attack shows strong seasonality. The purpose of the present study was
to quantify the contribution of climate variables and other seasonal factors on the incidence …

Background Fabry disease is an X-linked disorder resulting from a deficiency of the
lysosomal enzyme alpha-galactosidase A(α-Gal A). Renal insufficiency is a very important …

Gaucher disease (GD) is the most common form of sphingolipidosis and is caused by a
defect of β-glucosidase (β-Glu). A carbohydrate mimic N-octyl-β-valienamine (NOV) is an …

Background Although oxidative stress by accumulation of reactive oxygen species (ROS) in
diabetes has become evident, it remains unclear what genes, involved in redox balance, …