Detection of inherited neurometabolic disorders. A practical clinical approach.
The most common neurometabolic disorders to be considered are organic acidurias and amino acid apathies followed by urea cycle disorders, congenital lactic acidosis, peroxisomal disorders, and, less frequently, sphingolipidoses, mucopolysaccharidoses, glycoprotein degradation disorders, fatty acid oxidation disorders, and neuronal ceroid lipofuscinoses.
Chaves-Carballo
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Department of Pediatrics, University of Kansas Medical Center, Kansas City.
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000145:classification / Q000175:diagnosis* / Q000235:genetics