Literature DB >> 1635807

Detection of inherited neurometabolic disorders. A practical clinical approach.

E Chaves-Carballo1.   

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.

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Year:  1992        PMID: 1635807     DOI: 10.1016/s0031-3955(16)38376-6

Source DB:  PubMed          Journal:  Pediatr Clin North Am        ISSN: 0031-3955            Impact factor:   3.278


  1 in total

1.  Biotinidase deficiency--a treatable entity.

Authors:  S Gulati; G R Passi; A Kumar; M Kabra; V Kalra; I C Verma
Journal:  Indian J Pediatr       Date:  2000-06       Impact factor: 1.967

  1 in total

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