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
ISSN: 1098-4275
Standard No.: 10.1542/peds.2011-2927 doi
Subjects--Topical Terms: 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