(Q52313042)

29 April 2018

title

Aspartylglucosaminuria: psychomotor retardation masquerading as a mucopolysaccharidosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A805826

29 July 2022

main subject

aspartylglucosaminuria

1 reference

J. N. Isenberg

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A805826

29 July 2022

H. L. Sharp

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A805826

29 July 2022

language of work or name

English

0 references

publication date

1 May 1975

1 reference

29 April 2018

The Journal of Pediatrics

published in

1 reference

29 April 2018

volume

86

1 reference

29 April 2018

issue

5

1 reference

29 April 2018

page(s)

713-717

1 reference

29 April 2018

Aspartylglycosaminuria. An inborn error of metabolism associated with mental defect.

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2875%2980355-6

Thin-layer chromatographic demonstration of aspartylglycosylamine and a novel acidic carbohydrate in human tissues

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2875%2980355-6

Screening test for aspartylglycosaminuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2875%2980355-6

Cardiac involvement in Sandhoff's disease. Inborn error of glycosphingolipid metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2875%2980355-6

Enzymatic cleavage of 2-acetamido-1-(beta'-L-aspartamido)-1,2-dideoxy-beta-D-glucose by human plasma and seminal fluid. Failure to detect the heterozygous state for aspartylglycosaminuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2875%2980355-6

Aspartylglucosaminuria II: biochemical studies on brain, liver, kidney and spleen

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2875%2980355-6

Aspartylglucosaminuria: Deficiency of aspartylglucosaminidase in cultured fibroblasts of patients and their heterozygous parents

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2875%2980355-6

10.1016/S0022-3476(75)80355-6

7 January 2021

Identifiers

DOI

1 reference

29 April 2018

1 reference

29 April 2018