Article
Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindreds.
The Journal of pediatrics - 1 Jan 1991
Haworth J C, Booth F A, Chudley A E, deGroot G W, Dilling L A, Goodman S I, Greenberg C R, Mallory C J, McClarty B M, Seshia S S
Abstract excerpt
We describe 14 patients with glutaric aciduria type 1 in five Canadian Indian kindreds living in Manitoba and northwest Ontario. The patients had marked clinical variability of the disease, even within families. Eight followed the typical clinical course of normal early growth and development until the onset of neurologic abnormalities, often precipitated by infection, between 6 weeks and 7 1/2 months of age....
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