Sialidosis Type 1

This publication has 15 references indexed in Scilit:

• Sialidosis type 1: cherry red spot-myoclonus syndrome with sialidase deficiency and altered electrophoretic mobilities of some enzymes known to be glycoproteins. 1. Clinical findings.
  Journal of Neurology, Neurosurgery & Psychiatry, 1979
• The cherry red spot—myoclonus syndrome: A newly recognized inherited lysosomal storage disease due to acid neuraminidase deficiency
  Clinical Genetics, 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
• The deficiency of a lysosomal acid hydrolase in two clones derived from the human lymphoblastoid line F137 after mutagen treatment
  Annals of Human Genetics, 1977
• 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
• Characterization and tissue distribution of N-acetyl hexosaminidase C: suggestive evidence for a separate hexosaminidase locus
  Annals of Human Genetics, 1976
• Activity of the ‘red cell’ acid phosphatase locus in other tissues
  Annals of Human Genetics, 1973