MOLECULAR ANALYSIS OF CARNITINE PALMITOYLTRANSFERASE DEFICIENCY

Pubblicazioni Scientifiche

• AMERICAN JOURNAL OF HUMAN GENETICS

  Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression

• BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION

  IDENTIFICATION OF 5' REGULATORY REGIONS OF THE HUMAN CARNITINE PALMITOYLTRANSFERASE-II GENE

• CURRENT OPINION IN NEUROLOGY

  Fatty acid mitochondrial beta-oxidation and hypoglycaemia in children

• GENOMICS

  ASSIGNMENT OF THE HUMAN CARNITINE PALMITOYLTRANSFERASE-II GENE (CPT1) TO CHROMOSOME-1P32

• HUMAN GENETICS

  Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency

• HUMAN MOLECULAR GENETICS

  CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY - STRUCTURE OF THE GENE AND CHARACTERIZATION OF 2 NOVEL DISEASE-CAUSING MUTATIONS

• HUMAN MUTATION

  Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: Functional analysis and association with polymorphic haplotypes and two clinical phenotypes

• JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

  Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: Implications for diagnosis and therapy

• JOURNAL OF PEDIATRICS

  Hypoparathyroidism in mitochondrial trifunctional protein deficiency

• JOURNAL OF THE NEUROLOGICAL SCIENCES

  Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: Expression of the molecular phenotype in cultured muscle cells