(Q48496203)

12 February 2018

title

Heterogeneity of carboxypeptidase activity in infantile-onset galactosialidosis. (English)

1 reference

12 February 2018

author name string

P T Ozand

series ordinal

1

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12 February 2018

G G Gascon

series ordinal

2

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12 February 2018

publication date

1 April 1992

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12 February 2018

Journal of Child Neurology

published in

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12 February 2018

volume

7 Suppl

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12 February 2018

page(s)

S31-40

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12 February 2018

Macular cherry-red spots and myoclonus with dementia: Coexistent neuraminidase and β-galactosidase deficiencies

cites work

1 reference

https://api.crossref.org/works/10.1177%2F08830738920070010611

Combined deficiency of β-galactosidase and neuraminidase: Three affected siblings in a French family

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738920070010611

beta-Galactosidase deficiency in juvenile and adult patients. Report of six Japanese cases and review of literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738920070010611

Combined deficiency of beta-galactosidase and neuraminidase: natural history of the disease in the first 18 years of an American patient with late infantile onset form

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738920070010611

Juvenile galactosialidosis in a white male: a new variant

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738920070010611

Disorders of glycoprotein degradation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738920070010611

Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738920070010611

Expression of cDNA encoding the human "protective protein" associated with lysosomal beta-galactosidase and neuraminidase: homology to yeast proteases

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738920070010611

Galactosialidosis: simultaneous deficiency of esterase, carboxy-terminal deamidase and acid carboxypeptidase activities

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738920070010611

Sialidosis and galactosialidosis: chromosomal assignment of two genes associated with neuraminidase-deficiency disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738920070010611

GM1 gangliosidosis type 2 in two siblings

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738920070010611

The presence of a reduced amount of 32-kd "protective" protein is a distinct biochemical finding in late infantile galactosialidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738920070010611

Structure of the lysosomal neuraminidase-beta-galactosidase-carboxypeptidase multienzymic complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738920070010611

10.1177/08830738920070010611

21 January 2018

Identifiers

DOI

1 reference

12 February 2018

release_zkkki5frzvgtbhgxtzasw47qma

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/zkkki5frzvgtbhgxtzasw47qma

mapped directly with Wikidata item

24 November 2022

based on heuristic

PubMed ID

1588013

1 reference

12 February 2018