Article
Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): evidence for a founder effect and results of a pilot study on a DNA-based newborn screening program.
Molecular genetics and metabolism - 1 May 2001
Prasad C, Johnson J P, Bonnefont J P, Dilling L A, Innes A M, Haworth J C, Beischel L, Thuillier L, Prip-Buus C, Singal R, Thompson J R, Prasad A N, Buist N, Greenberg C R
Abstract excerpt
We describe six patients with hepatic carnitine palmitoyl transferase (CPT1 A) deficiency who are members of a large extended Hutterite kindred living in widely scattered communities in the United States and Canadian Prairies. Two patients have significant neurological impairment due to severe re...
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