Supporting Rare Disease Research with the 2020 BeHEARD Awards
Type
Blog Post
...Creatine Deficiency Syndromes (CCDS) that present as global developmental delays or autism spectrum disorder...transporter SLC6A8 impede this transport and result in global creatine deficiency, which is characterized by ...estimated to affect 0.27 to 4.6 per 10,000 people globally. Pustules form from the uncontrolled activation...