Associated Papers
CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.
Isackson PJ et al.
Molecular Genetics and Metabolism, 2008
Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency.
Corti S et al.
Journal of the Neurological Sciences, 2008
Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency.
Isackson PJ et al.
Molecular Genetics and Metabolism, 2006
A new insight into PMM2 mutations in the French population.
Le Bizec C et al.
Human Mutation, 2005
Amino acid residues important for substrate specificity of the amino acid permeases Can1p and Gnp1p in Saccharomyces cerevisiae.
Regenberg B et al.
Yeast (chichester, England), 2001
Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects.
Bonnefont JP et al.
Molecular Aspects of Medicine, 0
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