Malonyl coenzyme A decarboxylase deficiency: early dietary restriction and time course of cardiomyopathy. [electronic resource]
Producer: 20121011Description: e456-60 p. digitalISSN:- 1098-4275
- 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
No physical items for this record
Publication Type: Case Reports; Journal Article
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