Sialidoses

This publication has 42 references indexed in Scilit:

• Atypical expression of ß-galactosidase deficiency in a child with Hurler-like features but without neurological abnormalities
  Clinical Genetics, 2008
• Biochemical investigations of cultured amniotic fluid cells in mucolipidosis type IV
  Clinica Chimica Acta; International Journal of Clinical Chemistry, 1980
• A severe infantile sialidosis: Clinical, biochemical, and microscopic features
  The Journal of Pediatrics, 1980
• Deficiency of neuraminidase in the sialidoses and the mucolipidoses
  Human Genetics, 1980
• I-cell disease: Deficiency of extracellular hydrolase phosphorylation
  Biochemical and Biophysical Research Communications, 1979
• Optimal conditions for the assay of fibroblast neuraminidase with different natural substrates
  Biochimica et Biophysica Acta (BBA) - Enzymology, 1979
• Mucolipidosis type IV: Ganglioside sialidase deficiency
  Biochemical and Biophysical Research Communications, 1979
• Oligosaccharide and Ganglioside Neuraminidase Activities of Mucolipidosis I (Sialidosis) and Mucolipidosis II (I‐Cell Disease) Fibroblasts
  European Journal of Biochemistry, 1979
• Mucolipidosis I: Increased sialic acid content and deficiency of an α-N-acetylneuraminidase in cultured fibroblasts
  Biochemical and Biophysical Research Communications, 1977
• Abnormal ganglioside accumulation in cultured fibroblasts from patients with mucolipidosis IV
  Biochemical and Biophysical Research Communications, 1975