Irish Child Health Database - Peer Reviewed Papers
Your search returns 1 documents
Twenty-one patients have been diagnosed with glutaric aciduria type I over a 16-year period in the Republic of Ireland, 11 following clinical presentation and 10 following a high-risk screen. Nineteen have been managed with diet. Eight patients have died, of whom 7 were diagnosed clinically. Six had dystonic and one spastic cerebral palsy. Of the 11 patients who did not have cerebral more...
Endocrine, nutritional and metabolic diseases - Metabolic disorders - glutaric aciduria type 1
glutaric aciduria type I:
Republic of Ireland
J Inherit Metab Dis, Vol: 27 Page: 917-20 2004
E. R. Naughten; P. D. Mayne; A. A. Monavari; S. I. Goodman; G. Sulaiman; D. T. Croke