(Q78005509)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10407784%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10407784%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

1 reference

O N Elpeleg

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10407784%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

A Shaag

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10407784%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

publication date

1 June 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10407784%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

10 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10407784%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

volume

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10407784%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10407784%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

page(s)

531-534

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10407784%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1023/a:1005512524957

10 December 2019

exact match

0 references

cites work

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Unreliable verification of prenatal diagnosis of Canavan disease: aspartoacylase activity in deficient and normal fetal skin fibroblasts

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

First‐trimester prenatal diagnosis of 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

Canavan disease: from spongy degeneration to molecular analysis

1 reference

12 December 2020

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

1 reference

12 December 2020

Canavan disease: mutations among Jewish and non-Jewish patients

1 reference

12 December 2020