(Q41401196)

30 September 2017

title

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

1 reference

30 September 2017

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

1 reference

https://api.crossref.org/works/10.1002/HUMU.1380050313

5 June 2024

1

R. Kaul

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7599639

5 June 2024

author name string

G. P. Gao

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7599639

5 June 2024

K. Michals

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7599639

5 June 2024

D. T. Whelan

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7599639

5 June 2024

S. Levin

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7599639

5 June 2024

R. Matalon

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7599639

5 June 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=7599639

5 June 2024

publication date

1 January 1995

1 reference

full work available at URL

30 September 2017

https://doi.org/10.1002/humu.1380050313

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7599639

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhumu.1380050313

5 June 2024

1 reference

https://api.crossref.org/works/10.1002/HUMU.1380050313

https://onlinelibrary.wiley.com/doi/full/10.1002/humu.1380050313

5 June 2024

1 reference

https://api.crossref.org/works/10.1002/HUMU.1380050313

5 June 2024

1 reference

30 September 2017

volume

5

1 reference

30 September 2017

issue

3

1 reference

30 September 2017

page(s)

269-271

1 reference

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

30 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050313

SCHILDER'S ENCEPHALITIS PERIAXIALIS DIFFUSA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050313

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050313

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/10.1002%2FHUMU.1380050313

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050313

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/10.1002%2FHUMU.1380050313

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050313

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050313

7 January 2021

Canavan disease: biochemical and molecular studies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050313

7 January 2021

Aspartoacylase deficiency and Canavan disease in Saudi Arabia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050313

7 January 2021

Identifiers

1 reference

30 September 2017

1 reference