A method for the quantitative determination of neutral glycosphingolipids in urine sediment

by R.J. Desnick, C.C. Sweeley, W. Krivit
Published 1970-01-01

Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutations

by A. Moghe, V.M.S. Ramanujam, J.D. Phillips, R.J. Desnick, K.E. Anderson
Published 2019-06-01

Many pitfalls in diagnosis of acute intermittent porphyria: a case report

by N. L. R. Indika, T. Kesavan, H. W. Dilanthi, K. L. S. P. K. M. Jayasena, N. D. P. D. Chandrasiri, I. N. Jayasinghe, U. M. T. Piumika, D. M. Vidanapathirana, K. D. A. V. Gunarathne, M. Dissanayake, E. Jasinge, W. Kodikara Arachchi, D. Doheny, R. J. Desnick
Published 2018-08-01