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Molecular Genetics and Metabolism|January 27, 2005
The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type IS Tortorelli, S H Hahn, T M Cowan, et al.
American Journal of Medical Genetics|February 1, 1985
Oto-palato-digital syndrome, type II--an X-linked skeletal dysplasiaT G Brewster, R S Lachman, D C Kushner, et al.
Journal of Inherited Metabolic Disease|March 18, 2003
Newborn screening compared to clinical identification of biochemical genetic disordersS E Waisbren, C Y Read, M Ampola, et al.
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