(Q70409454)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3141716%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

title

Infantile sialic acid storage disease in two siblings (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3141716%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

1 reference

A Cooper

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3141716%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

I B Sardharwalla

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3141716%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

M Thornley

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3141716%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

K P Ward

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3141716%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

publication date

1 January 1988

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3141716%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

11 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3141716%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

volume

11 Suppl 2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3141716%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

page(s)

259-262

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3141716%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf01804252

11 October 2019

exact match

0 references

cites work

Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type.

1 reference

12 December 2020

Congenital ascites as a presenting sign of lysosomal storage disease

1 reference

12 December 2020

Generalized N-acetylneuraminic acid storage disease: quantitation and identification of the monosaccharide accumulating in brain and other tissues.

1 reference

12 December 2020

Human beta-mannosidase deficiency: biochemical findings in plasma, fibroblasts, white cells and urine

1 reference

12 December 2020

Infantile type of sialic acid storage disease with sialuria.

1 reference

12 December 2020

Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings

1 reference

12 December 2020

Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease

1 reference

12 December 2020

Free N-acetylneuraminic acid (NANA) storage disorders: evidence for defective NANA transport across the lysosomal membrane

1 reference

12 December 2020

The thiobarbituric acid assay of sialic acids

1 reference

12 December 2020

Prenatal diagnosis and confirmation of infantile sialic acid storage disease

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01804252

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3141716%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

1 reference