This monograph presents an overview of the lysosome and its different roles in the maintenance of cellular homeostasis. It also provides a description of the various pathophysiologic changes associated with the lysosomal storage disorders. Therapeutic considerations and aspects relating to genetic counselling are covered in the final section. Several diagrams are provided to facilitate greater understanding of relevant themes. Additionally, contextual material is given at the end of each chapter, which elaborates on some of the entries brought up in the discussions. The book is written by an expert in the field who has been engaged in basic and clinical research. It offers a broad perspective and should appeal to both novices and experts in the field who seek a single resource that provides a comprehensive examination of the relevant topics. Issues covered should appeal to both the basic scientist and the clinician.
A graduate of the University of Sto. Tomas in Manila (1983) and trained in Pediatrics and Genetics at the Mount Sinai Medical Center in New York (1989) and Mayo Clinic in Minnesota (1991). While at Mount Sinai, he received the Young Pediatric Investigator Award, Mount Sinai Child Health Research Center, NIH (5 P30 HD28822), 1993-1996, and the Clinical Associate Physician Award, Mount Sinai General Clinical Research Center, National Center for Research Resources, NIH (5M01-RR0071), 1996-1997. Prior to coming to Ireland, he was an Associate Professor of Neurology and Pediatrics at the NYU School of Medicine in New York, and Director of the Neurogenetics Laboratory for the Department of Neurology at NYU in New York (1997-2013).