Statistics from Altmetric.com
We would like to draw attention to a recent discovery that may explain the striking discordance between the clinical and biochemical phenotypes observed in Schindler disease. This disorder was originally reported in siblings with deficiency of α-N-acetylgalactosaminidase (α-NAGA) and early-onset, rapidly progressive psychomotor regression.1 Whereas α-NAGA deficiency underlies the abnormal oligosacchariduria found in Schindler disease, its causal role in the neurological phenotype has been questioned. Other patients with α-NAGA deficiency show a puzzling spectrum of clinical findings that range from angiokeratoma to …
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.