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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
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Prasad C., Johnson J.P., Bonnefont J., 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. 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. Mol. Genet. Metab. 2001, 73:55-63.
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Preliminary evidence for high frequency of combined CPT1 and CPT2 mutations in the Canadian Inuit [abstract]
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Seargeant L.E., Stier A., Prasad C., Grewar D.A., Chan A., Bamforth F., Macleod P.M., IJlst L., Wanders R.J.A., Greenberg C.R. Preliminary evidence for high frequency of combined CPT1 and CPT2 mutations in the Canadian Inuit [abstract]. J. Inherit. Metab. Dis. 2003, 26:97.
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The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations
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Greenberg C.R., Dilling L.A., Thompson G.R., Seargeant L.E., Haworth J.C., Phillips S., Chan A., Vallance H.D., Waters P.J., Sinclair G., Lillquist Y., Wanders R.J.A., Olpin S.E. The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations. Mol. Genet. Metab. 2009, 96:201-207.
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Clinical manifestations and consequences of the P479L mutation of carnitine palmitoyl transferase type 1 deficiency in the Alaskan native population [abstract]
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Retrospective genotyping of newborn screening cards for the P479L carnitine palmitoyltransferase (CPT1) variant: correlation with acylcarnitine profiles and estimation of incidence in British Columbia [abstract]
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Sinclair G., Ma J., Macleod P.M., Arbour L., Vallance H.D. Retrospective genotyping of newborn screening cards for the P479L carnitine palmitoyltransferase (CPT1) variant: correlation with acylcarnitine profiles and estimation of incidence in British Columbia [abstract]. Mol. Genet. Metab. 2007, 90:262.
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Hepatic carnitine palmitoyltransferase I deficiency: acylcarnitine profiles in blood spots are highly specific
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Carnitine palmitoyltransferase IA polymorphism P479L is common in Greenland Inuit and is associated with elevated plasma apolipoprotein A-I
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Rajakumar C., Ban M.R., Cao H., Young T.K., Bjerregaard P., Hegele R.A. Carnitine palmitoyltransferase IA polymorphism P479L is common in Greenland Inuit and is associated with elevated plasma apolipoprotein A-I. J. Lipid Res. 2009, 50:1223-1228.
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Birth outcomes in the Inuit-inhabited areas of Canada
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Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death
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