Journal of Neurology

, Volume 243, Issue 1, pp 102–103 | Cite as

Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle

  • Paolino Ninfali
  • Nereo Bresolin
  • Bruno Dallapiccola
  • Giuseppe Novelli
Letter to the Editors


Public Health Skeletal Muscle Molecular Basis Uridyltransferase Deficiency 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  1. 1.
    Bresolin N, Comi GP, Fortunato F, Meola G, Gallanti A, Tajana A, Velicogna M, Gonano EF, Ninfali P, Pifferi S, Scarlato G (1993) Clinical and biochemical evidence of skeletal muscle involvement in galactose-l-phosphate uridyl transferase deficiency. J Neurol 240:272–277Google Scholar
  2. 2.
    Reichardt JKV, Packam S, Woo SLC (1991) Molecular characterization of two galactosemia mutations and one polymorphism: correlation of mutations with the highly conserved domains in galactose-l-phosphate uridyltransferase. Am J Hum Genet 49: 860–867Google Scholar
  3. 3.
    Reichardt JKV, Woo SLC (1991) Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose 1-phosphate uridyltransferase. Proc Natl Acad Sci USA 88:2633–2637Google Scholar

Copyright information

© Springer-Verlag 1996

Authors and Affiliations

  • Paolino Ninfali
    • 1
  • Nereo Bresolin
    • 2
  • Bruno Dallapiccola
    • 3
  • Giuseppe Novelli
    • 4
  1. 1.Istituto di Chimica Biologica “G. Fornaini”Università di UrbinoUrbino (PS)Italy
  2. 2.Istituto di Clinica NeurologicaUniversità di MilanoMilanItaly
  3. 3.Cattedra di Genetica UmanaUniversità di Tor VergataRomeItaly
  4. 4.Cattedra di Genetica UmanaUniversità Cattolica del Sacro CuoreRomeItaly

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