Nine cases of sphingomyelin lipidosis, a new variant in Spanish-American Children. Juvenile variant of Niemann-Pick Disease with foamy and sea-blue histiocytes.
暂无分享,去创建一个
[1] J. Callahan,et al. Sphingomyelinases in Human Tissues. II. Absence of a Specific Enzyme from Liver and Brain of Niemann-Pick Disease, Type C , 1975, Pediatric Research.
[2] C. Epstein,et al. Pathogenesis of one variant of sea-blue histiocytosis. , 1975, Laboratory investigation; a journal of technical methods and pathology.
[3] R. Brady,et al. A practical chromogenic procedure for the detection of homozygotes and heterozygous carriers of Niemann-Pick disease. , 1975, The New England journal of medicine.
[4] O. Appenzeller,et al. Sea-blue histiocytes and sural nerve in neurovisceral storage disorder with vertical ophthalmoplegia , 1975, Journal of the Neurological Sciences.
[5] D. Wenger,et al. Lactosyl ceramidosis: normal activity for two lactosyl ceramide beta-galactosidases. , 1975, Science.
[6] H. Mckelvey,et al. An improved method for the identification of patients and carriers of Krabbe's disease. , 1974, Clinica chimica acta; international journal of clinical chemistry.
[7] J. Callahan,et al. Isoenzymes of sphingomyelinase and the genetic defect in Niemann-Pick disease, type C. , 1974, Biochemical and biophysical research communications.
[8] B. Neville,et al. A neurovisceral storage disease with vertical supranuclear ophthalmoplegia, and its relationship to Niemann-Pick disease. A report of nine patients. , 1973, Brain : a journal of neurology.
[9] J. Martín,et al. Niemann-Pick disease (Crocker's group A). Late onset and pigmentary degeneration resembling Hallervorden-Spatz syndrome. , 1972, Archives of neurology.
[10] M. N. Silverstein,et al. The syndrome of the sea-blue histiocyte. , 1972, Seminars in hematology.
[11] W. Grover,et al. Progressive paresis of vertical gaze in lipid storage disease , 1971, Neurology.
[12] Elfenbein Ib,et al. Juvenile dystonic lipidosis. , 1969 .
[13] A. Staal,et al. Sphingomyelin of red blood cells in lipidosis and in dementia of unknown origin in children. , 1969, Archives of disease in childhood.
[14] R. Brady,et al. Deficiency of sphingomyelin-cleaving enzyme activity in tissue cultures derived from patients with Niemann-Pick disease. , 1969, Biochemical and biophysical research communications.
[15] D. Oppenheimer,et al. Histological and chemical findings in juvenile Niemann-Pick disease , 1967 .
[16] E. P. Kennedy,et al. Sphingomyelinase in normal human spleens and in spleens from subjects with Niemann-Pick disease. , 1967, Journal of lipid research.
[17] A. Tingey,et al. The juvenile form of Niemann-Pick disease. , 1967, Archives of disease in childhood.
[18] J. Kampine,et al. Diagnosis of Gaucher's Disease and Niemann-Pick Disease with Small Samples of Venous Blood , 1967, Science.
[19] W. Schubert,et al. CHRONIC RETICULOENDOTHELIAL CELL STORAGE DISEASE. , 1965, American journal of diseases of children.
[20] A. Crocker. THE CEREBRAL DEFECT IN TAY‐SACHS DISEASE AND NIEMANN‐PICK DISEASE * , 1961, Journal of neurochemistry.
[21] S. Farber,et al. NIEMANN‐PICK DISEASE: A REVIEW OF EIGHTEEN PATIENTS , 1958, Medicine.