Nephropathic cystinosis with central nervous system involvement

The Metabolic Basis of Inherited Disease.

Annals of Internal Medicine · 1988 · 7.8K citations

Metabolic Syndrome, Energy Metabolism, Disease Mechanism +12

The Metabolic Basis of Inherited Disease.

Annals of Internal Medicine · 1983 · 2.7K citations

Metabolic Syndrome, Disease Mechanism, Metabolic Disorder +7

Cystine Transport Is Defective in Isolated Leukocyte Lysosomes from Patients with Cystinosis

W. A. Gahl, Nava Bashan, Frank Tietze et al. · Science · 1982 · 362 citations

Protein Secretion, Pathology, Cytoskeleton +16

Cystinosis. Intracellular cystine depletion by aminothiols in vitro and in vivo.

Jess G. Thoene, Robert G. Oshima, J.C. Crawhall et al. · Journal of Clinical Investigation · 1976 · 335 citations · Full text

Molecular Pharmacology, Glomerulonephritis, Urology +12

Detection and characterization of carrier-mediated cationic amino acid transport in lysosomes of normal and cystinotic human fibroblasts. Role in therapeutic cystine removal?

R.L. Pisoni, Jess G. Thoene, H N Christensen · Journal of Biological Chemistry · 1985 · 187 citations · Full text

Protein Secretion, Therapeutic Cystine Removal, Cytoskeleton +17