Mesh : Amino Acid Metabolism, Inborn Errors / diagnosis diet therapy genetics Brain / pathology Carnitine / administration & dosage Cephalometry Child, Preschool Chromosome Aberrations DNA Mutational Analysis Diagnosis, Differential Diet, Protein-Restricted Exons / genetics Genes, Recessive Glutarates / urine Glutaryl-CoA Dehydrogenase / deficiency Guideline Adherence Humans Infant Infant, Newborn Lysine / administration & dosage Magnetic Resonance Imaging Male Neonatal Screening Prognosis Tryptophan / administration & dosage
来 源: DOI:10.1055/s-0029-1239525 PDF(Sci-hub)