MOLECULAR ANALYSIS OF CARNITINE PALMITOYLTRANSFERASE DEFICIENCY
- 2 Anni 1995/1997
- 56.810€ Totale Fondi
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Pubblicazioni Scientifiche
- 1998 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
- 1994 BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION
IDENTIFICATION OF 5' REGULATORY REGIONS OF THE HUMAN CARNITINE PALMITOYLTRANSFERASE-II GENE
- 1996 JOURNAL OF THE NEUROLOGICAL SCIENCES
Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: Expression of the molecular phenotype in cultured muscle cells
- 1994 GENOMICS
ASSIGNMENT OF THE HUMAN CARNITINE PALMITOYLTRANSFERASE-II GENE (CPT1) TO CHROMOSOME-1P32
- 1997 JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: Implications for diagnosis and therapy
- 1996 HUMAN GENETICS
Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency
- 1995 HUMAN MOLECULAR GENETICS
CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY - STRUCTURE OF THE GENE AND CHARACTERIZATION OF 2 NOVEL DISEASE-CAUSING MUTATIONS
- 1996 CURRENT OPINION IN NEUROLOGY
Fatty acid mitochondrial beta-oxidation and hypoglycaemia in children
- 1996 JOURNAL OF PEDIATRICS
Hypoparathyroidism in mitochondrial trifunctional protein deficiency
- 1996 AMERICAN JOURNAL OF HUMAN GENETICS
Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression