SIALIDOSIS - REVIEW OF HUMAN NEURAMINIDASE DEFICIENCY

This publication has 61 references indexed in Scilit:

• Altered serum α-D-mannosidase activity in mucolipidosis II and mucolipidosis III
  Biochemical and Biophysical Research Communications, 1978
• Neuraminidase deficiency in the cherry red spot-myoclonus syndrome
  Biochemical and Biophysical Research Communications, 1977
• Increased levels of sialic acid associated with a sialidase deficiency in I-cell disease (mucolipidosis II) fibroblasts
  Biochemical and Biophysical Research Communications, 1976
• Genetic heterogeneity in GM1-gangliosidosis
  Nature, 1975
• Studies on the Pathogenetic Mechanism of I-Cell Disease in Cultured Fibroblasts
  Pediatric Research, 1974
• Localized beta-galactosidase deficiency. Occurrence in cerebellar ataxia with myoclonus epilepsy and macular cherry-red spot--a new variant of GM1-gangliosidosis?
  Archives of internal medicine (1960), 1974
• ANGIOKERATOMA CORPORIS DIFFUSUM AND LYSOSOMAL ENZYME DEFICIENCY
  The Lancet, 1974
• Endoglycosidases acting on carbohydrate moieties of glycoproteins: Demonstration in mammalian tissue
  Biochemical and Biophysical Research Communications, 1974
• A hypothesis for I-cell disease: Defective hydrolases that do not enter lysosomes
  Biochemical and Biophysical Research Communications, 1972
• A chromogenic substrate for the investigation of neuraminidases
  FEBS Letters, 1969