The hips are frequently involved in inheritable diseases which affect the bones. clinical and radiological presentation of these may be very similar to common hip disorders as developmental dysplasia hip, osteoarthritis avascular necrosis, so diagnosis easily overlooked treatment suboptimal. Mucopolysaccharidosis (MPS) Mucolipidosis (ML II III) lysosomal storage with multisystemic involvement. ...

Activator protein (AP), which stimulated fibroblast sphingomyelinase activity, was isolated from the spleen of a patient with Gaucher's disease type I by the combined techniques of heat and alcohol denaturation, DEAE-cellulose column chromatography, gel filtration, preparative polyacrylamide-gel electrophoresis and decyl-agarose chromatography. Urea/sodium dodecyl sulphate (SDS)/polyacrylamide-...

Lysosomal storage disorders (LSDs) are inherited diseases characterized by progressive intracellular accumulation of undigested macromolecules within the cell due to specific lysosomal defects. Lysosomal storage results in a global impairment ofmany lysosome‐dependent pathways (e.g. autophagy and endocytosis), leading to cellular dysfunction and death (Ballabio &Gieselmann, 2009). LSD patients ...

A growing body of evidence continues to demonstrate the vital roles that zinc and its transporters play on human health. The mammalian solute carrier 30 (SLC30) family, with ten current members, controls efflux transport in cells. TMEM163, a recently reported transporter, has similar characteristics both predicted transmembrane domain structure function cation diffusion facilitator (CDF) protei...

Introduction: A 6-year-old boy was referred to our hospital because of the stiffness both knees, which had commenced two years ago and gradually progressed hips, ankles, elbows, fingers, toes. He occasionally arthralgia with no complaint joint swelling. a long face, prominent forehead chin, short neck. There limitation in range motion all appendicular joints deformity. Case Presentation: Skelet...