Lysosomes are ubiquitous membrane-bound intracellular organelles with an acidic interior. They are central for degradation and recycling of macromolecules delivered by endocytosis, phagocytosis, and autophagy. In contrast to the rather simplified view of lysosomes as waste bags, nowadays lysosomes are recognized as advanced organelles involved in many cellular processes and are considered cruci...

This volume should be available to all clinicians caring for patients with this confusing group of disorders. Hematologists, geneticists, general surgeons, and pediatricians will find it of great value. Investigators whose field of interest includes the lysosomal storage diseases and the function of lysosomal hydrolases will also find it of value, particularly from the methodological point of v...

Small molecule chaperones are a promising therapeutic approach for the Lysosomal Storage Disorders (LSDs). Here, we report the discovery of a new series of non-iminosugar glucocerebrosidase inhibitors with chaperone capacity, and describe their structure activity relationship (SAR), selectivity, cell activity phamacokinetics.

We describea specific,simpletiquid-chromatographic method for detecting the lysosomal storage disease aspartylglycosaminuna. The method is based on identification and quantificationof the major storage compound 2acetamido-1-L--aspartamido-1 ,2-dldeoxy--D-glucose in the urine of affected individuals.Sample preparation and chromatographicanalysisrequires30 mm. Within-dayvariation of the method wa...

UNLABELLED Fabry disease (FD) is a rare X-linked genetic lysosomal storage disease caused by a deficiency of the enzyme α-galactosidase A, that produces accumulation of globotriaosylceramide. There is a multisystemic involvement, including renal, cardiac, eye, and nervous system manifestations. AIM To perform a descriptive analysis of the ophthalmological manifestations in Mexican patients wi...

Excellent book is always being the best friend for spending little time in your office, night time, bus, and everywhere. It will be a good way to just look, open, and read the book while in that time. As known, experience and skill don't always come with the much money to acquire them. Reading this book with the PDF rare inborn errors of metabolism in adults the lysosomal storage disorders cong...

Correspondence to Frances M. Platt: [email protected]; Barry Boland: [email protected]; or Aarnoud C. van der Spoel: [email protected] Abbreviations used in this paper: CNS, central nervous system; LSD, lysosomal storage disease; NPC, Niemann-Pick type C. Lysosomal storage disorders: A brief overview Inborn errors of metabolism are a common cause of inherited disease (Burton, 1998), of...

Several reports have described magnetic resonance (MR) findings in canine and feline lysosomal storage diseases such as gangliosidoses and neuronal ceroid lipofuscinosis. Although most of those studies described the signal intensities of white matter in the cerebrum, findings of the corpus callosum were not described in detail. A retrospective study was conducted on MR findings of the corpus ca...

We present a rare case of Tay-Sachs disease with retinal 'cherry-red spots' in a 19-month-old Malay child. Molecular genetic studies confirmed the diagnosis. The case highlights that 'cherry-red spot' is a useful clinical clue in Tay-Sachs disease and several other lysosomal storage disorders. It serves as an ideal illustration of the eye as a window to inborn error of metabolism.