Canavan disease prenatal diagnosis and genetic counseling (Q34729068)

4 August 2017

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title

Canavan disease prenatal diagnosis and genetic counseling (English)

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4 August 2017

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Reuben Matalon

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4 August 2017

Kimberlee Michals Matalon

series ordinal

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4 August 2017

publication date

1 June 2002

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Obstetrics and Gynecology Clinics of North America

4 August 2017

published in

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4 August 2017

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4 August 2017

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4 August 2017

page(s)

297-304

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

4 August 2017

cites work

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https://api.crossref.org/works/10.1016%2FS0889-8545%2801%2900003-1

7 January 2021

SCHILDER'S ENCEPHALITIS PERIAXIALIS DIFFUSA

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8545%2801%2900003-1

7 January 2021

https://api.crossref.org/works/10.1016%2FS0889-8545%2801%2900003-1

1 reference

7 January 2021

Molecular water pumps and the aetiology of Canavan disease: a case of the sorcerer's apprentice

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8545%2801%2900003-1

7 January 2021

Studies on the function of N-acetyl aspartic acid in brain

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8545%2801%2900003-1

7 January 2021

Spongy degeneration of the brain, Canavan disease: biochemical and molecular findings

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8545%2801%2900003-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8545%2801%2900003-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8545%2801%2900003-1

7 January 2021

The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8545%2801%2900003-1

7 January 2021

Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8545%2801%2900003-1

7 January 2021

Aspartoacylase gene transfer to the mammalian central nervous system with therapeutic implications for Canavan disease

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8545%2801%2900003-1

7 January 2021

Spongy degeneration of the central nervous system (Van Bogaert and Bertrand type; Canavan's disease)A review

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8545%2801%2900003-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8545%2801%2900003-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8545%2801%2900003-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8545%2801%2900003-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8545%2801%2900003-1

7 January 2021

Prenatal diagnosis for Canavan disease: the use of DNA markers

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https://api.crossref.org/works/10.1016%2FS0889-8545%2801%2900003-1

7 January 2021

Prenatal diagnosis of Canavan disease

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https://api.crossref.org/works/10.1016%2FS0889-8545%2801%2900003-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8545%2801%2900003-1

7 January 2021

10.1016/S0889-8545(01)00003-1

Identifiers

DOI

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4 August 2017

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