Literature DB >> 2234319

N-acetylaspartic aciduria in Canavan disease: another proof in two infants.

K Yalaz1, M Topçu, H Topaloğlu, O Gürçay, O E Ozcan, B Onol, Y Renda.   

Abstract

Increased amounts of urinary N-acetyl-aspartic acid was found in two infants with biopsy proven Canavan disease. The aspartoacylase assay is a new tool for determining both the prenatal and antenatal diagnosis of Canavan disease. This assay should be screened in patients with early onset of psychomotor deterioration, macrocephaly, spasticity/hypotonia and white matter hyperleucency at CT scan.

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Year:  1990        PMID： 2234319     DOI： 10.1055/s-2008-1071481

Source DB:  PubMed          Journal:  Neuropediatrics        ISSN： 0174-304X            Impact factor:   1.947


  2 in total

1.  Identification of N-acetyl-alpha-aminoadipic acid in the urine of a patient with alpha-aminoadipic and alpha-ketoadipic aciduria.

Authors:  T Takechi; T Okada; H Wakiguchi; H Morita; T Kurashige; K Sugahara; H Kodama
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

2.  Biochemical diagnosis of Canavan disease.

Authors:  G Bartalini; M Margollicci; P Balestri; M A Farnetani; M Cioni; A Fois
Journal:  Childs Nerv Syst       Date:  1992-12       Impact factor: 1.475
  2 in total

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