(Q33607727)

28 July 2017

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title

Biochemistry and molecular biology of Canavan disease (English)

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28 July 2017

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Matalon R

1

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28 July 2017

Michals-Matalon K

series ordinal

2

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28 July 2017

publication date

1 April 1999

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28 July 2017

published in

Neurochemical Research

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28 July 2017

volume

24

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28 July 2017

issue

4

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28 July 2017

page(s)

507-513

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Prenatal diagnosis for Canavan disease: the use of DNA markers

28 July 2017

cites work

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12 December 2020

SPONGY DEGENERATION OF THE CENTRAL NERVOUS SYSTEM: CASE OF HOMOCYSTINURIA

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12 December 2020

Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease

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12 December 2020

Spongy degeneration of white matter in the central nervous system of silver foxes (Vulpes vulpes)

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12 December 2020

Clinical and magnetic resonance imaging features of L-2-hydroxyglutaric acidemia: report of three cases in comparison with Canavan disease.

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12 December 2020

Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease

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12 December 2020

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

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12 December 2020

Computed tomography in the diagnosis of Canavan's disease.

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12 December 2020

Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course.

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12 December 2020

Canavan disease: diagnosis and molecular analysis

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12 December 2020

Canavan disease: CT and MR imaging of the brain.

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12 December 2020

In vivo assessment of N-acetylaspartate in brain in spongy degeneration (Canavan's disease) by proton spectroscopy

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12 December 2020

Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with canavan disease

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12 December 2020

Neurochemical and immunocytochemical studies on the distribution of N-acetyl-aspartylglutamate and N-acetyl-aspartate in rat spinal cord and some peripheral nervous tissues

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12 December 2020

Spontaneous spongy degeneration of the mouse brain

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12 December 2020

Missense mutation (I143T) in a Japanese patient with Canavan disease

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12 December 2020

Leukoencephalopathy, megalencephaly, and mild clinical course. A recently individualized familial leukodystrophy. Report on five new cases.

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12 December 2020

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

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12 December 2020

Prenatal detection of Canavan disease by measurement of N-acetyl-L-aspartate in amniotic fluid.

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12 December 2020

Quantitative measurements with localized 1H MR spectroscopy in children with Canavan's disease.

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12 December 2020

Gene therapy in New Zealand

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12 December 2020

Cystic leukoencephalopathy in a megalencephalic child: clinical and magnetic resonance imaging/magnetic resonance spectroscopy findings

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12 December 2020

Novel (cys152>arg) missense mutation in an Arab patient with Canavan disease

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12 December 2020

Canavan disease: genomic organization and localization of human ASPA to 17p13-ter and conservation of the ASPA gene during evolution

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12 December 2020

Cerebral spongy degeneration of infancy. A biochemical and ultrastructural study of affected twins

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12 December 2020

Mitochondrial cytopathy or Leigh's syndrome? Mitochondrial abnormalities in Spongiform encephalopathies.

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12 December 2020

Prevalence of Canavan disease heterozygotes in the New York metropolitan Ashkenazi Jewish population

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12 December 2020

Electron microscopic and enzyme histochemical studies of the cerebellum in spongy degeneration (van Bogaert and Bertrans type).

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12 December 2020

Spongy degeneration of the central nervous system in two canine littermates

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12 December 2020

N-Acetyl-L-aspartic acid in brain.

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12 December 2020

Spongy degeneration of the white matter of the central nervous system associated with hyperglycinuria

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12 December 2020

CT findings in a case of deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase

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12 December 2020

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

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12 December 2020

Canavan disease: mutations among Jewish and non-Jewish patients

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12 December 2020

[Molecular pathological aspects in spongy encephalopathies]

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12 December 2020

Specificity of amino acid acylases

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12 December 2020

Spongy Degeneration of the CNS in Infancy

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12 December 2020

Identifiers

DOI

10.1023/A:1022531829100

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Dimensions Publication ID

28 July 2017

1039713473

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