Clinical, biochemical, and ultrastructural studies in a case of chondrodystrophy presenting the I-cell phenotype in tissue culture.
暂无分享,去创建一个
[1] J. Opitz,et al. I-cell disease: a clinical picture. , 1971, The Journal of pediatrics.
[2] K. Méhes,et al. I-Cell Disease. , 1970, The New England journal of medicine.
[3] P. Maroteaux,et al. [Type II mucolipidosis]. , 1970, La Presse medicale.
[4] M. Ho,et al. Hurler's Syndrome: Deficiency of a Specific Beta Galactosidase Isoenzyme , 1969, Science.
[5] M. Tondeur,et al. CLINICAL, BIOCHEMICAL AND ULTRASTRUCTURAL STUDIES OF AN ATYPICAL FORM OF MUCOPOLYSACCHARIDOSIS , 1969, Acta paediatrica Scandinavica.
[6] J. Dodion,et al. Biochemical and ultrastructural studies in Hurler's syndrome. , 1968, The Journal of pediatrics.
[7] H. Hers,et al. The abnormalities of lysosomal enzymes in mucopolysacc- haridoses. , 1968, European journal of biochemistry.
[8] C. W. Hall,et al. Hurler and Hunter Syndromes: Mutual Correction of the Defect in Cultured Fibroblasts , 1968, Science.
[9] C. W. Hall,et al. The defect in Hurler's and Hunter's syndromes: faulty degradation of mucopolysaccharide. , 1968, Proceedings of the National Academy of Sciences of the United States of America.
[10] J. A. Cifonelli,et al. Lipid abnormalities in a variant of the Hurler syndrome. , 1968, Proceedings of the National Academy of Sciences of the United States of America.
[11] H. Steinbach,et al. The Hurler syndrome without abnormal mucopolysacchariduria. , 1968, Radiology.
[12] R. Demars,et al. Mutant Enzymatic and Cytological Phenotypes in Cultured Human Fibroblasts , 1967, Science.
[13] P. Öckerman. A GENERALISED STORAGE DISORDER RESEMBLING HURLER'S SYNDROME , 1967 .
[14] J. Pincus,et al. Delayed development of disturbed mucopolysaccharide metabolism in a Hurler variant. , 1967, Archives of neurology.
[15] R. Escourolle,et al. [Cerebral biopsy in a case of H. S. mucopolysaccharidosis. (Polydystrophic oligophrenia or Sanfilippo's disease). Histochemical and ultrastructural study]. , 1966, La Presse medicale.
[16] A. Bearn,et al. HURLER'S SYNDROME , 1966, The Journal of experimental medicine.
[17] D. Lagunoff,et al. The site of mucopolysaccharide accumulation in Hurler's syndrome. An electron microscopic and histochemical study. , 1966, Laboratory investigation; a journal of technical methods and pathology.
[18] R. Matalon,et al. Hurler's syndrome: biosynthesis of acid mucopolysaccharides in tissue culture. , 1966, Proceedings of the National Academy of Sciences of the United States of America.
[19] R. Bernard,et al. [Complex osteodystrophy of Hurler's disease type]. , 1966, Pediatrie.
[20] W. P. Callahan,et al. Hepatic ultrastructure in the Hurler syndrome. , 1966, The American journal of pathology.
[21] A. Bearn,et al. HURLER'S SYNDROME , 1966, The Journal of experimental medicine.
[22] V. McKusick,et al. THE GENETIC MUCOPOLYSACCHARIDOSES , 1965, Medicine.
[23] M. Lamy,et al. Hurler's disease, Morquio's disease, and related mucopolysaccharidoses , 1965 .
[24] R. Terry,et al. ELECTRON MICROSCOPY OF TWO CEREBRAL, BIOPSIES IN GARGOYLISM , 1965, Journal of neuropathology and experimental neurology.
[25] S. Spicer. DIAMINE METHODS FOR DIFFERENTIATING MUCOSUBSTANCES HISTOCHEMICALLY , 1965 .
[26] Bourdillon Jf. IMMUNISATION AGAINST MEASLES. , 1964, The Lancet.
[27] B. Landing,et al. HISTOCHEMICAL STUDIES IN HURLER'S DISEASE: A NEW METHOD FOR LOCALIZATION OF ACID MUCOPOLYSACCHARIDE, AND AN ANALYSIS OF LEAD ACETATE "FIXATION" , 1961, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.
[28] J. Caffey. Gargoylism (Hunter-Hurler disease, dysostosis multiplex, lipochondrodystrophy) prenatal and neonatal bone lesions and their early postnatal evolution. , 1951, The American journal of roentgenology, radium therapy, and nuclear medicine.
[29] M. Tondeur,et al. Etude ultrastructurelle du foie dans la maladie de Morquio , 1969, Pediatric Research.
[30] F. Giraud,et al. Ostéodystrophie complexe à type de maladie de Hurler. , 1966 .
[31] J. Dodion,et al. [Study of a case of polydystrophic oligophrenia (Hurler's syndrome, mucopolysaccharidosis)]. , 1966, Pathologia Europaea.
[32] R. Escourolle,et al. Biopsie cérébrale d'un cas de mucopolysaccharidose H.S. (Oligophrénie polydystrophique ou maladie de Sanfilippo). Etude histochimique et ultrastructurale. , 1966 .