Literature DB >> 7609457

First-trimester prenatal diagnosis of Canavan disease.

M O Rolland1, P Divry, G Mandon, J M Thoulon, A Fiumara, M Mathieu.   

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Year:  1993        PMID： 7609457     DOI： 10.1007/BF00711687

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  6 in total

1.  Prenatal diagnosis of Canavan disease.

Authors:  R Matalon; K Michals; P Gashkoff; R Kaul
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Prenatal diagnosis of Canavan disease.

Authors:  C Jakobs; H J ten Brink; P Divry; M O Rolland
Journal:  Eur J Pediatr       Date:  1992-08       Impact factor: 3.183

3.  Prenatal detection of Canavan disease.

Authors:  P T Ozand; R R Feryal; G G Gascon; H Gleispach; A al Aqeel; J D Cook; M J Nester; A al Odaib; H J Leis
Journal:  Lancet       Date:  1991-03-23       Impact factor: 79.321

4.  N-acetylaspartic aciduria due to aspartoacylase deficiency--a new aetiology of childhood leukodystrophy.

Authors:  L Hagenfeldt; I Bollgren; N Venizelos
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

5.  Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease.

Authors:  R Matalon; K Michals; D Sebesta; M Deanching; P Gashkoff; J Casanova
Journal:  Am J Med Genet       Date:  1988-02

6.  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
  6 in total
  1 in total

1.  The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.

Authors:  O N Elpeleg; A Shaag
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982
  1 in total

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