Prada, Carlos E

Malonyl coenzyme A decarboxylase deficiency: early dietary restriction and time course of cardiomyopathy. [electronic resource] - Pediatrics Aug 2012 - e456-60 p. digital

Publication Type: Case Reports; Journal Article

1098-4275

10.1542/peds.2011-2927 doi


Alleles
Carboxy-Lyases--deficiency
Cardiomyopathies--diet therapy
Carnitine--administration & dosage
Chromosome Aberrations
Chromosome Deletion
Codon, Terminator--genetics
DNA Mutational Analysis
Dietary Fats--administration & dosage
Echocardiography, Doppler, Color
Female
Frameshift Mutation--genetics
Genes, Recessive
Homozygote
Humans
Infant
Infant Formula--chemistry
Infant, Newborn
Isolated Noncompaction of the Ventricular Myocardium--diet therapy
Malonyl Coenzyme A
Metabolism, Inborn Errors--diet therapy
Methylmalonic Acid
Neonatal Screening
Phenotype
Rare Diseases
Triglycerides--administration & dosage