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Literature DB >> 3148075

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

P Divry¹, C Vianey-Liaud, C Gay, V Macabeo, F Rapin, B Echenne.

Abstract

Entities: Chemical Disease Species

Mesh：

Substances：

Year: 1988 PMID： 3148075 DOI： 10.1007/bf01800378

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

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2 in total

1. 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

2. 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

2 in total

17 in total

1. 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

2. Sudden infant death syndrome: organic acid profiles in cerebrospinal fluid from 47 children and the occurrence of N-acetylaspartic acid.

Authors: P Divry; C Vianey-Liaud; C Jakobs; H J ten-Brink; J Dutruge; R Gilly
Journal: J Inherit Metab Dis Date: 1990 Impact factor: 4.982

3. Canavan disease: findings in four new cases.

Authors: H Michelakakis; S Giouroukos; P Divry; E Katsarou; M O Rolland; A Skardoutsou
Journal: J Inherit Metab Dis Date: 1991 Impact factor: 4.982

4. Quantification of N-acetyl-L-aspartic acid in urine by isotope dilution gas chromatography-mass spectrometry.

Authors: R I Kelley; J N Stamas
Journal: J Inherit Metab Dis Date: 1992 Impact factor: 4.982

5. 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

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

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

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

1. Prenatal diagnosis of Canavan disease.

2. Sudden infant death syndrome: organic acid profiles in cerebrospinal fluid from 47 children and the occurrence of N-acetylaspartic acid.

3. Canavan disease: findings in four new cases.

4. Quantification of N-acetyl-L-aspartic acid in urine by isotope dilution gas chromatography-mass spectrometry.

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

6. SSIEM Award. Aspartoacylase deficiency: the enzyme defect in Canavan disease.

7. The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel.

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

9. Magnetic resonance imaging in juvenile Canavan disease.

10. Biochemical diagnosis of Canavan disease.