Biochemical diagnosis of cystinosis using cultured cells

Biochemical diagnosis of cystinosis using cultured cells.

Wilcox, P., and Patrick, A. D. (1974). Archives of Disease in Childhood, 49,209. Biochemical diagnosis of cystinosis using cultured ceils. A simple method is described for the biochemical diagnosis of cystinosis using small numbers of cells cultured in medium containing L-35S-cystine. Nonprotein sulphur-labelled compounds were extracted from the cells and separated by thin-layer chromatography....

Cystine storage in cultured myotubes from patients with nephropathic cystinosis.

Sorted muscle cells, cultured from a patient with nephropathic cystinosis, stored 100 times normal amounts of cystine. Subcellular fractionation and density-gradient centrifugation confirmed that the cystine was located in a lysosomal compartment. 2. Myoblasts from cystinotic patients in culture underwent fusion to myotubes in a normal fashion. 3. The free thiol cysteamine effectively depleted ...

etiology, significance, diagnosis and treatment of bruxiam

چکیده ندارد.

Cystinosis.

bIochEmIcal dIagnoSIS and dIffErEntIal dIagnoSIS

the characteristic Cushingoid appearance except in some patients with the ectopic ACTH syndrome, whereas patients with only subtle hypersecretion of cortisol may exhibit less obvious physical changes. In addition, some features found in patients with CS such as obesity, hypertension, mood changes, and menstrual irregularities are also common in the general population. In such cases the presence...