Literature DB >> 10384383

Prenatal diagnosis of Canavan disease--problems and dilemmas.

G T Besley1, O N Elpeleg, A Shaag, N J Manning, C Jakobs, J H Walter.   

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Year:  1999        PMID： 10384383     DOI： 10.1023/a:1005534105933

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


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  7 in total

1.  Gene trial in New Zealand.

Authors:  M J During
Journal:  Lancet       Date:  1996-08-31       Impact factor: 79.321

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.  Unreliable verification of prenatal diagnosis of Canavan disease: aspartoacylase activity in deficient and normal fetal skin fibroblasts.

Authors:  M O Rolland; G Mandon; A Bernard; M T Zabot; M Mathieu
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

4.  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

5.  Prenatal detection of Canavan disease (aspartoacylase deficiency) by DNA analysis.

Authors:  O N Elpeleg; A Shaag; Y Anikster; C Jakobs
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

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

Review 7.  Canavan disease: from spongy degeneration to molecular analysis.

Authors:  R Matalon; K Michals; R Kaul
Journal:  J Pediatr       Date:  1995-10       Impact factor: 4.406
  7 in total
  3 in total

1.  Genes, patients, families, doctors-mutation analysis in clinical practice.

Authors:  J H Walter
Journal:  J Inherit Metab Dis       Date:  2009-03-24       Impact factor: 4.982

2.  Molecular characterisation and prenatal diagnosis of Asparto-acylase deficiency (Canavan disease)--report of two novel and two known mutations from the Indian subcontinent.

Authors:  Sunita Bijarnia; Sudha Kohli; Ratna Dua Puri; Rintu J Jacob; Renu Saxena; Anil Jalan; Eric A Sistermans; Saqib Mahmood; Ishwar Chander Verma
Journal:  Indian J Pediatr       Date:  2012-08-10       Impact factor: 1.967

3.  Impact of gene patents and licensing practices on access to genetic testing and carrier screening for Tay-Sachs and Canavan disease.

Authors:  Alessandra Colaianni; Subhashini Chandrasekharan; Robert Cook-Deegan
Journal:  Genet Med       Date:  2010-04       Impact factor: 8.822
  3 in total

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