(Q72135324)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7707689%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

title

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

1 reference

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24 October 2019

1 reference

O N Elpeleg

1

1 reference

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24 October 2019

A Shaag

series ordinal

2

1 reference

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24 October 2019

Y Anikster

series ordinal

3

1 reference

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24 October 2019

C Jakobs

series ordinal

4

1 reference

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24 October 2019

publication date

1 January 1994

1 reference

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Journal of Inherited Metabolic Disease

24 October 2019

published in

1 reference

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24 October 2019

volume

17

1 reference

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24 October 2019

issue

6

1 reference

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24 October 2019

page(s)

664-666

1 reference

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https://scigraph.springernature.com/pub.10.1007/bf00712008

24 October 2019

exact match

0 references

cites work

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00712008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7707689%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference