2 Children’s Hospital, University of Mainz, Mainz, Germany Introduction For clinicians managing patients with lysosomal storage disease (LSD), the early years of the 21st century have been characterized by the…
Case history 1 A full-term female was born after an uneventful pregnancy. She had an abnormally high respiratory rate of 100 per minute during the first day. Her liver was…
2 Department of Paediatric Neurology, Evelina Children’s Hospital, Guy’s and St Thomas’ NHS Foundation Trust, London, UK Batten disease or Neuronal Ceroid Lipofuscinosis (NCLs) is the collective name for a…
Type A A 3-month-old previously well boy was noted to have hepatosplenomegaly during a routine pediatric visit. Over the next several months, the infant acquired developmental milestones appropriately and learned…
The canonical endocytic pathway progresses along an increasing lumen-acidic gradient from early endosomes retrogradely trafficked from the plasma membrane, to multivesicular bodies or late endosomes, and finally to perinuclear-localized lysosomes….
