Études sur les sialidoses et les mucolipidoses

This publication has 36 references indexed in Scilit:

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• Studies on the sialidoses. Properties of human leucocyte neuraminidases
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• Fluorometric assay of neuraminidase with a sodium (4-methylumbelliferyl-α-d-N-acetylneuraminate) substrate
  Analytical Biochemistry, 1979
• Macular cherry-red spots and myoclonus with dementia: Coexistent neuraminidase and β-galactosidase deficiencies
  Biochemical and Biophysical Research Communications, 1978
• Neuraminidase deficiency in the cherry red spot-myoclonus syndrome
  Biochemical and Biophysical Research Communications, 1977
• Mucolipidosis I: Increased sialic acid content and deficiency of an α-N-acetylneuraminidase in cultured fibroblasts
  Biochemical and Biophysical Research Communications, 1977
• Isolated acid neuraminidase deficiency: A distinct lysosomal storage disease
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• 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
  Biochimica et Biophysica Acta (BBA) - General Subjects, 1976
• Increased levels of sialic acid associated with a sialidase deficiency in I-cell disease (mucolipidosis II) fibroblasts
  Biochemical and Biophysical Research Communications, 1976