Long-term prognosis in galactosaemia: results of a survey of 350 cases

J Inherit Metab Dis. 1990;13(6):802-18. doi: 10.1007/BF01800204.

Abstract

An international survey of the long term results of treating galactosaemia has shown poor results. These do not seem to be related to any of the relevant variables studied, for example delayed diagnosis or poor dietary compliance.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Developmental Disabilities / etiology
  • Female
  • Galactosemias* / blood
  • Galactosemias* / complications
  • Galactosemias* / diagnosis
  • Galactosemias* / diet therapy
  • Galactosemias* / physiopathology
  • Galactosephosphates / blood
  • Humans
  • Infant
  • Infant, Newborn
  • Intelligence
  • Male
  • Ovary / physiopathology
  • Prognosis
  • Sex Factors
  • Surveys and Questionnaires
  • Time Factors

Substances

  • Galactosephosphates
  • galactose-1-phosphate