Detection of inherited neurometabolic disorders. A practical clinical approach.
作者信息
Chaves-Carballo E
机构信息
Department of Pediatrics, University of Kansas Medical Center, Kansas City.
出版信息
Pediatr Clin North Am. 1992 Aug;39(4):801-20. doi: 10.1016/s0031-3955(16)38376-6.
PMID:1635807
Abstract
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.
摘要
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