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Literature DB >> 1405477

Prenatal diagnosis of Canavan disease.

R Matalon¹, K Michals, P Gashkoff, R Kaul.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 1992 PMID： 1405477 DOI： 10.1007/bf02435985

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

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5 in total

1. Diagnosis of organic acidemias by gas chromatography--mass spectrometry.

Authors: S I Goodman; S P Markey
Journal: Lab Res Methods Biol Med Date: 1981

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

Authors: R Matalon; R Kaul; J Casanova; K Michals; A Johnson; I Rapin; P Gashkoff; M Deanching
Journal: J Inherit Metab Dis Date: 1989 Impact factor: 4.982

5. Purification, characterization, and localization of aspartoacylase from bovine brain.

Authors: R Kaul; J Casanova; A B Johnson; P Tang; R Matalon
Journal: J Neurochem Date: 1991-01 Impact factor: 5.372

5 in total

11 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 diagnosis for Canavan disease: the use of DNA markers.

Authors: R Matalon; R Kaul; G P Gao; K Michals; R G Gray; S Bennett-Briton; A Norman; M Smith; C Jakobs
Journal: J Inherit Metab Dis Date: 1995 Impact factor: 4.982

3. 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

4. The single cell as a tool for genetic testing: credibility, precision, implication.

Authors: Keren Dotan; Baruch Feldman; Boleslaw Goldman; Yehuda Peri; Leah Peleg
Journal: J Assist Reprod Genet Date: 2010-03-03 Impact factor: 3.412

5. 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

6. 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

7. Canavan disease: mutations among Jewish and non-Jewish patients.

Authors: R Kaul; G P Gao; M Aloya; K Balamurugan; A Petrosky; K Michals; R Matalon
Journal: Am J Hum Genet Date: 1994-07 Impact factor: 11.025

Review 8. Canavan disease: biochemical and molecular studies.

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

9. Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.

Authors: B J Zeng; Z H Wang; L A Ribeiro; P Leone; R De Gasperi; S J Kim; S Raghavan; E Ong; G M Pastores; E H Kolodny
Journal: J Inherit Metab Dis Date: 2002-11 Impact factor: 4.982

10. Canavan disease: molecular basis of aspartoacylase deficiency.

Authors: R Kaul; G P Gao; K Balamurugan; R Matalon
Journal: J Inherit Metab Dis Date: 1994 Impact factor: 4.982