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Literature DB >> 2512436

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

R Matalon¹, R Kaul, J Casanova, K Michals, A Johnson, I Rapin, P Gashkoff, M Deanching.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 1989 PMID： 2512436 DOI： 10.1007/bf03335413

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

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6 in total

1. Hurler's syndrome: biosynthesis of acid mucopolysaccharides in tissue culture.

Authors: R Matalon; A Dorfman
Journal: Proc Natl Acad Sci U S A Date: 1966-10 Impact factor: 11.205

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

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

4. 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

5. 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

6. 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

6 in total

17 in total

Review 1. Biochemistry and molecular biology of Canavan disease.

Authors: R Matalon; K Michals-Matalon
Journal: Neurochem Res Date: 1999-04 Impact factor: 3.996

2. Prenatal diagnosis of Canavan disease.

Authors: R Matalon; K Michals; P Gashkoff; R Kaul
Journal: J Inherit Metab Dis Date: 1992 Impact factor: 4.982

3. 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

4. Effects of severe global ischemia on N-acetylaspartate and other metabolites in the rat brain.

Authors: T Higuchi; S H Graham; E J Fernandez; W D Rooney; H L Gaspary; M W Weiner; A A Maudsley
Journal: Magn Reson Med Date: 1997-06 Impact factor: 4.668

5. Linking mechanistic and behavioral responses to sublethal esfenvalerate exposure in the endangered delta smelt; Hypomesus transpacificus (Fam. Osmeridae).

Authors: Richard E Connon; Juergen Geist; Janice Pfeiff; Alexander V Loguinov; Leandro S D'Abronzo; Henri Wintz; Christopher D Vulpe; Inge Werner
Journal: BMC Genomics Date: 2009-12-15 Impact factor: 3.969

10. 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