Biochemical diagnosis of mucopolysaccharidoses: Experience of 297 diagnoses in a 15-year period (1977–1991)

This publication has 32 references indexed in Scilit:

• The iduronate sulfatase gene: Isolation of a 1.2-Mb YAC contig spanning the entire gene and identification of heterogeneous deletions in patients with Hunter syndrome
  Genomics, 1992
• Genetic mapping of new RFLPs at Xq27–q28
  Genomics, 1991
• Sanfilippo B disease: a re-examination of a particular sibship after 12 years
  Journal of Inherited Metabolic Disease, 1991
• First-trimester prenatal diagnosis of Sanfilippo C disease
  Prenatal Diagnosis, 1987
• First Trimester Prenatal Diagnosis of Metabolic Diseases: A survey in countries from the European Community
  Prenatal Diagnosis, 1987
• Prenatal diagnosis of hunter syndrome using chorionic villi
  Prenatal Diagnosis, 1986
• Prenatal diagnosis of mucopolysaccharidosis I: A special difficulty arising from an unusually low enzyme activity in mother's cells
  Prenatal Diagnosis, 1985
• A Direct Spectrophotometric Microassay for Sulfated Glycosaminoglycans in Cartilage Cultures
  Connective Tissue Research, 1982
• Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship
  Clinical Genetics, 1979
• Iduronate sulfatase in amniotic fluid: An aid in the prenatal diagnosis of the Hunter syndrome
  The Journal of Pediatrics, 1977