Prenatal diagnosis of sialidosis with combined neuraminidase and ø‐galactosidase deficiency

This publication has 5 references indexed in Scilit:

• β-Galactosidase deficiency in an adult: A biochemical and somatic cell genetic study on a variant of GM1-gangIiosidosis
  Clinical Genetics, 2008
• Synthesis of 2'-(4-methylumbelliferyl)-.alpha.-D-N-acetylneuraminic acid and detection of skin fibroblast neuraminidase in normal humans and in sialidosis
  Biochemistry, 1979
• Macular cherry-red spots and myoclonus with dementia: Coexistent neuraminidase and β-galactosidase deficiencies
  Biochemical and Biophysical Research Communications, 1978
• ENZYMATIC STUDIES OF A NEW VARIANT OF GM1 GANGLIOSIDOSIS IN AN OLDER CHILD
  Pediatric Research, 1977
• Rapid prenatal diagnosis of GM1-gangliosidosis using microchemical methods
  Human Genetics, 1976