Literature DB >> 28771253

Health effects of the CPT1A P479L variant: responsible public health policy.

David M Koeller1, Matt Hirschfeld2, Stephanie Birch3, Thalia Wood4, Rebekah Morisse5, Sabra Anckner6, Bradford D Gessner7.   

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Year:  2017        PMID： 28771253     DOI： 10.1038/gim.2017.116

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


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  11 in total

1.  Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme.

Authors:  N F Brown; R S Mullur; I Subramanian; V Esser; M J Bennett; J M Saudubray; A S Feigenbaum; J A Kobari; P M Macleod; J D McGarry; J C Cohen
Journal:  J Lipid Res       Date:  2001-07       Impact factor: 5.922

2.  Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant.

Authors:  Melanie B Gillingham; Matthew Hirschfeld; Sarah Lowe; Dietrich Matern; James Shoemaker; William E Lambert; David M Koeller
Journal:  Mol Genet Metab       Date:  2011-06-28       Impact factor: 4.797

3.  Prevalence and distribution of the c.1436C→T sequence variant of carnitine palmitoyltransferase 1A among Alaska Native infants.

Authors:  Bradford D Gessner; Melanie B Gillingham; Monique A Johnson; C Sue Richards; William E Lambert; David Sesser; Leanne C Rien; Cheryl A Hermerath; Michael R Skeels; Stephanie Birch; Cary O Harding; Thalia Wood; David M Koeller
Journal:  J Pediatr       Date:  2010-09-16       Impact factor: 4.406

4.  Evidence for an association between infant mortality and a carnitine palmitoyltransferase 1A genetic variant.

Authors:  Bradford D Gessner; Melanie B Gillingham; Stephanie Birch; Thalia Wood; David M Koeller
Journal:  Pediatrics       Date:  2010-10-11       Impact factor: 7.124

5.  The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states.

Authors:  J P Bonnefont; N B Specola; A Vassault; A Lombes; H Ogier; J B de Klerk; A Munnich; M Coude; M Paturneau-Jouas; J M Saudubray
Journal:  Eur J Pediatr       Date:  1990-12       Impact factor: 3.183

6.  Carnitine palmitoyltransferase IA polymorphism P479L is common in Greenland Inuit and is associated with elevated plasma apolipoprotein A-I.

Authors:  Chandheeb Rajakumar; Matthew R Ban; Henian Cao; T Kue Young; Peter Bjerregaard; Robert A Hegele
Journal:  J Lipid Res       Date:  2009-01-29       Impact factor: 5.922

Review 7.  Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects.

Authors:  Jean-Paul Bonnefont; Fatima Djouadi; Carina Prip-Buus; Stephanie Gobin; Arnold Munnich; Jean Bastin
Journal:  Mol Aspects Med       Date:  2004 Oct-Dec

Review 8.  Carnitine palmitoyltransferase 1A P479L and infant death: policy implications of emerging data.

Authors:  Alison E Fohner; Nanibaa' A Garrison; Melissa A Austin; Wylie Burke
Journal:  Genet Med       Date:  2017-01-26       Impact factor: 8.822

9.  Causes and risk factors for infant mortality in Nunavut, Canada 1999-2011.

Authors:  Sorcha A Collins; Padma Surmala; Geraldine Osborne; Cheryl Greenberg; Laakkuluk Williamson Bathory; Sharon Edmunds-Potvin; Laura Arbour
Journal:  BMC Pediatr       Date:  2012-12-12       Impact factor: 2.125

10.  Evidence for an association between infant mortality and homozygosity for the arctic variant of carnitine palmitoyltransferase 1A.

Authors:  Bradford D Gessner; Thalia Wood; Monique A Johnson; Carolyn Sue Richards; David M Koeller
Journal:  Genet Med       Date:  2016-01-28       Impact factor: 8.822
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