(Q67836063)

English

Stable isotope dilution analysis of N-acetylaspartic acid in CSF, blood, urine and amniotic fluid: accurate postnatal diagnosis and the potential for prenatal diagnosis of Canavan disease

scientific article published on 01 January 1991

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1779610%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

Stable isotope dilution analysis of N-acetylaspartic acid in CSF, blood, urine and amniotic fluid: accurate postnatal diagnosis and the potential for prenatal diagnosis of Canavan disease (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1779610%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

Canavan disease

1 reference

based on heuristic

inferred from title

author name string

C Jakobs

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1779610%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

H J ten Brink

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1779610%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

S A Langelaar

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1779610%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

T Zee

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1779610%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

F Stellaard

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1779610%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

M Macek

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1779610%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

K Srsnová

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1779610%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

S Srsen

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1779610%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

W J Kleijer

9

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1779610%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

publication date

1 January 1991

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1779610%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1779610%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

14

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1779610%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1779610%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

653-660

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1779610%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

https://scigraph.springernature.com/pub.10.1007/bf01799929

0 references

Prenatal diagnosis of the organic acidurias

1 reference

https://pubmed.ncbi.nlm.nih.gov/1779610

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of inherited metabolic disorders by quantitation of characteristic metabolites in amniotic fluid: facts and future

1 reference

https://pubmed.ncbi.nlm.nih.gov/1779610

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spongy degeneration of the neuraxis (Canavan-van Bogaert disease) and N-acetylaspartic aciduria

1 reference

https://pubmed.ncbi.nlm.nih.gov/1779610

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SPONGY DEGENERATION OF THE NERVOUS SYSTEM. A REPORT OF FOUR CASES WITH A REVIEW OF THE LITERATURE.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1779610

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1779610

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

N-acetylaspartic aciduria in a child with a progressive cerebral atrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/1779610

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Canavan disease and N-acetylaspartic aciduria

1 reference

https://pubmed.ncbi.nlm.nih.gov/1779610

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1779610

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Aspartoacylase deficiency and Canavan disease in Saudi Arabia

1 reference

https://pubmed.ncbi.nlm.nih.gov/1779610

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

N-acetylaspartic aciduria due to aspartoacylase deficiency--a new aetiology of childhood leukodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/1779610

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1779610

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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