Literature DB >> 1886410

Canavan disease: findings in four new cases.

H Michelakakis1, S Giouroukos, P Divry, E Katsarou, M O Rolland, A Skardoutsou.   

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Year:  1991        PMID: 1886410     DOI: 10.1007/bf01800603

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


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  5 in total

1.  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

2.  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

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.  N-acetylaspartic aciduria in a child with a progressive cerebral atrophy.

Authors:  E A Kvittingen; G Guldal; S Børsting; I O Skalpe; O Stokke; E Jellum
Journal:  Clin Chim Acta       Date:  1986-08-15       Impact factor: 3.786

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

Authors:  P Divry; M Mathieu
Journal:  Am J Med Genet       Date:  1989-04
  5 in total
  2 in total

Review 1.  Canavan disease: biochemical and molecular studies.

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

2.  The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients.

Authors:  A Shaag; Y Anikster; E Christensen; J Z Glustein; A Fois; H Michelakakis; F Nigro; E Pronicka; A Ribes; M T Zabot
Journal:  Am J Hum Genet       Date:  1995-09       Impact factor: 11.025

  2 in total

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