Literature DB >> 1505585

Prenatal diagnosis of Canavan disease.

C Jakobs, H J ten Brink, P Divry, M O Rolland.   

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Year:  1992        PMID： 1505585     DOI： 10.1007/bf01957737

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  4 in total

1.  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

2.  N-acetylaspartic aciduria: report of three new cases in children with a neurological syndrome associating macrocephaly and leukodystrophy.

Authors:  P Divry; C Vianey-Liaud; C Gay; V Macabeo; F Rapin; B Echenne
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

3.  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

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
  4 in total
  3 in total

1.  First-trimester prenatal diagnosis of Canavan disease.

Authors:  M O Rolland; P Divry; G Mandon; J M Thoulon; A Fiumara; M Mathieu
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

2.  Prenatal detection of Canavan disease by measurement of N-acetyl-L-aspartate in amniotic fluid.

Authors:  R I Kelley
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

3.  Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): comparison of enzymatic and metabolite analysis.

Authors:  M J Bennett; K M Gibson; W G Sherwood; P Divry; M O Rolland; O N Elpeleg; P Rinaldo; C Jakobs
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982
  3 in total

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