A severe infantile sialidosis: Clinical, biochemical, and microscopic features

This publication has 20 references indexed in Scilit:

• The cherry red spot—myoclonus syndrome: A newly recognized inherited lysosomal storage disease due to acid neuraminidase deficiency
  Clinical Genetics, 1978
• Macular cherry-red spots and myoclonus with dementia: Coexistent neuraminidase and β-galactosidase deficiencies
  Biochemical and Biophysical Research Communications, 1978
• Sialidase (α‐N‐acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry‐red spots and myoclonus without dementia
  Clinical Genetics, 1978
• The cherry‐red spot‐myoclonus syndrome
  Annals of Neurology, 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
  American Journal of Medical Genetics, 1977
• Mucolipidosis I — A sialidosis
  American Journal of Medical Genetics, 1977
• Mucolipidosis III (pseudo‐Hurler polydystrophy): Cytological and ultrastructural observations of cultured fibroblast cells
  Clinical Genetics, 1973
• Analysis of in mucolipidosis II (I-cell disease)
  Clinica Chimica Acta; International Journal of Clinical Chemistry, 1973