Sialidoses (mucolipidoses), clinical pictures.
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[1] P. Durand,et al. Sialidosis (mucolipidosis I). , 1977, Helvetica paediatrica acta.
[2] H. Patriquin,et al. Neonatal mucolipidosis II (I-cell disease): clinical and radiologic features in three cases. , 1977, AJR. American journal of roentgenology.
[3] K. Nagashima,et al. A NEW TYPE OF MUCOLIPIDOSIS ASSOCIATED WITH HEREDITARY THROMBOCYTOPATHY AND COLOR BLINDNESS , 1977, Acta pathologica japonica.
[4] G. Strecker,et al. Structure of nine sialyl-oligosaccharides accumulated in urine of eleven patients with three different types of sialidosis. Mucolipidosis II and two new types of mucolipidosis. , 1977, European journal of biochemistry.
[5] K. Nagashima,et al. I-cell disease (mucolipidosis 11). Pathological and biochemical studies of an autopsy case. , 1977, Acta pathologica japonica.
[6] Suzuki Yoshiyuki,et al. β-Galactosidase in mucopolysaccharidoses and mucolipidoses. deficiency of GM1 β-galactosidase in liver and leukocytes , 1977 .
[7] J. Spranger,et al. Mucolipidosis I: increased sialic acid content and deficiency of an alpha-N-acetylneuraminidase in cultured fibroblasts. , 1977, Biochemical and biophysical research communications.
[8] J. Sphranger,et al. Mucolipidosis I--a sialidosis. , 1977, American journal of medical genetics.
[9] G. Strecker,et al. Structure of the three major sialyl-oligosaccharides excreted in the urine of five patients with three distinct inborn diseases: "I cell disease" and two new types of mucolipidosis. , 1976, Biochimica et biophysica acta.
[10] G. Thomas,et al. Increased levels of sialic acid associated with a sialidase deficiency in I-cell disease (mucolipidosis II) fibroblasts. , 1976, Biochemical and biophysical research communications.
[11] J. O'brien,et al. Mucolipidosis II and III: different residual activity of beta‐galactosidase in cultured fibroblasts * , 1976, Clinical genetics.
[12] K. Nolte,et al. [Early skeletal changes in mucolipidosis III]. , 1976, Annales de radiologie.
[13] M. Rattazzi,et al. Abnormal lysosomal hydrolases excreted by cultured fibroblasts in I-cell disease (mucolipidosis II). , 1975, Biochemical and biophysical research communications.
[14] W. Sly,et al. Mucolipidosis III (pseudo-Hurler polydystrophy): Clinical and laboratory studies in a series of 12 patients. , 1975, The Johns Hopkins medical journal.
[15] H. Doose,et al. EEG in Mucolipidosis I , 1975 .
[16] Leroy Jg,et al. Mucolipidosis II (I-cell disease): present status of knowledge. , 1975 .
[17] Van Elsen Af,et al. Natural history of a mucolipidosis--twin girls discordant for ML III. , 1975 .
[18] R. Richart. Letter: Identity of cervical dysplasias. , 1975, Lancet.
[19] U. Wiesmann,et al. Studies on the Pathogenetic Mechanism of I-Cell Disease in Cultured Fibroblasts , 1974, Pediatric Research.
[20] A. Yamamoto,et al. Localized beta-galactosidase deficiency. Occurrence in cerebellar ataxia with myoclonus epilepsy and macular cherry-red spot--a new variant of GM1-gangliosidosis? , 1974, Archives of internal medicine.
[21] W. Sly,et al. Genetic heterogeneity in multiple lysosomal hydrolase deficiency. , 1974, The Journal of pediatrics.
[22] E. Berman,et al. Acid hydrolase deficiencies and abnormal glycoproteins in mucolipidosis. 3 (pseudo-Hurler polydystrophy). , 1974, Clinica chimica acta; international journal of clinical chemistry.
[23] N. Herschkowitz,et al. MUCOLIPIDOSIS II (I‐CELL DISEASE) A Clinical and Biochemical Study , 1974, Acta paediatrica Scandinavica.
[24] Kelly Te,et al. Mucolipidosis III (pseudo-Hurler polydystrophy). , 1974 .
[25] G. Thomas,et al. Mucolipidosis III (Pseudo-Hurler Polydystrophy): Multiple Lysosomal Enzyme Abnormalities in Serum and Cultured Fibroblast Cells , 1973, Pediatric Research.
[26] E. Neufeld,et al. A hypothesis for I-cell disease: defective hydrolases that do not enter lysosomes. , 1972, Biochemical and biophysical research communications.
[27] J. Leroy,et al. I-Cell Disease: Biochemical Studies , 1972, Pediatric Research.
[28] T. Orii,et al. A new type of mucolipidosis with -galactosidase deficiency and glycopeptiduria. , 1972, The Tohoku journal of experimental medicine.
[29] J. Goust,et al. Immunologic abnormalities in subacute sclerosing panencephalitis. , 1971, The New England journal of medicine.
[30] M. Goldberg,et al. Macular cherry-red spot, corneal clouding, and beta-galactosidase deficiency. Clinical, biochemical, and electron microscopic study of a new autosomal recessive storage disease. , 1971, Archives of internal medicine.
[31] J. Opitz,et al. I-cell disease: a clinical picture. , 1971, The Journal of pediatrics.
[32] N. Herschkowitz,et al. I-cell disease: multiple lysosomal-enzyme defect. , 1971, Lancet.
[33] N. Herschkowitz,et al. Australia antigen in volunteer and paid blood donors. , 1971 .
[34] J. Spranger,et al. Lipomucopolysaccharidosis a new storage disease: Eine neue Speicherkrankheit , 1968 .
[35] J. Hassoun,et al. Pathological findings in one case of neuronal and mesenchymal storage disease. Its relationship to lipidoses and to mucopolysaccharidoses. , 1968, Pathologia Europaea.
[36] M. Lamy,et al. [Hurler's pseudo-polydystrophy]. , 1966, La Presse medicale.