Komrower Lecture: Galactosaemia today: The enigma and the challenge

This publication has 58 references indexed in Scilit:

• Altered Follicle Stimulating Hormone Isoforms in Female Galactosaemia Patients
  European Journal of Pediatrics, 1997
• A prevalent mutation for galactosemia among black Americans
  The Journal of Pediatrics, 1996
• Correlation of cognitive, neurologic, and ovarian outcome with the Q188R mutation of the galactose-1-phosphate uridyltransferase gene
  The Journal of Pediatrics, 1994
• Long-term outcome in 134 patients with galactosaemia
  European Journal of Pediatrics, 1993
• Characterization of a novel biochemical abnormality in galactosemia: Deficiency of glycolipids containing galactose or N-acetylgalactosamine and accumulation of precursors in brain and lymphocytes
  Biochemical Medicine and Metabolic Biology, 1991
• Long‐term prognosis in galactosaemia: Results of a survey of 350 cases
  Journal of Inherited Metabolic Disease, 1989
• Galactosaemia — thirty years on. the experience of a generation
  Journal of Inherited Metabolic Disease, 1982
• Galactose intolerance in individuals with double heterozygosity for Duarte variant and galactosemia
  The Journal of Pediatrics, 1982
• Galactose-1-phosphate uridyl transferase deficiency due to Duarte/galactosemia combined variation: Clinical and biochemical studies
  The Journal of Pediatrics, 1978
• Galactosemia: Symptomatic and asymptomatic homozygotes in one Negro sibship
  The Journal of Pediatrics, 1966