Literature DB >> 2739878

Spongy degeneration of the neuraxis (Canavan-van Bogaert disease) and N-acetylaspartic aciduria.

B Echenne1, P Divry, C Vianey-Liaud.   

Abstract

Urinary excretion of an abnormal amount of N-acetylaspartic acid has been evident in a 17-month-old child with an infantile picture of Canavan-van Bogaert disease. This observation makes it possible to consider the possibility of a simple biological diagnosis and confirms the existence of metabolic abnormalities which will probably permit to make rapid progress in the physiopathologic study of this disease.

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Year:  1989        PMID： 2739878     DOI： 10.1055/s-2008-1071269

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


  6 in total

1.  Ultrastructural findings in spongy degeneration of white matter in silver foxes (Vulpes vulpes). A naturally occurring demyelinating disease with oligodendrocyte vacuolation.

Authors:  G Hagen; W F Blakemore; I Bjerkås
Journal:  Acta Neuropathol       Date:  1990       Impact factor: 17.088

2.  Cranial ultrasound findings in aspartoacylase deficiency (Canavan disease).

Authors:  C Bührer; C Bassir; A von Moers; J Sperner; T Michael; D Scheffner; H J Kaufmann
Journal:  Pediatr Radiol       Date:  1993

3.  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

4.  Stable isotope dilution analysis of N-acetylaspartic acid in CSF, blood, urine and amniotic fluid: accurate postnatal diagnosis and the potential for prenatal diagnosis of Canavan disease.

Authors:  C Jakobs; H J ten Brink; S A Langelaar; T Zee; F Stellaard; M Macek; K Srsnová; S Srsen; W J Kleijer
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

Review 5.  Canavan disease: biochemical and molecular studies.

Authors:  R Matalon; R Kaul; K Michals
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

6.  The natural history of Canavan disease: 23 new cases and comparison with patients from literature.

Authors:  Annette Bley; Jonas Denecke; Alfried Kohlschütter; Gerhard Schön; Sandra Hischke; Philipp Guder; Tatjana Bierhals; Heather Lau; Maja Hempel; Florian S Eichler
Journal:  Orphanet J Rare Dis       Date:  2021-05-19       Impact factor: 4.123
  6 in total

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