(Q48496172)

12 February 2018

title

Coincident neuraminidase and aspartoacylase deficiency associated with chromosome 9Q paracentric inversion in a Saudi family. (English)

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12 February 2018

author name string

G G Gascon

1

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12 February 2018

N G Youssef

2

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12 February 2018

S B Subramanyam

3

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12 February 2018

P T Ozand

4

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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)

S73-8

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12 February 2018

Infantile CNS spongy degeneration--14 cases: clinical update.

cites work

1 reference

https://api.crossref.org/works/10.1177%2F08830738920070011111

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

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738920070011111

Biochemical heterogeneity of infantile central nervous system spongy degeneration

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738920070011111

Heterogeneity of carboxypeptidase activity in infantile-onset galactosialidosis.

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738920070011111

Genetic heterogeneity in human neuraminidase deficiency.

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738920070011111

Mucolipidosis I — A sialidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738920070011111

Isolated acid neuraminidase deficiency: A distinct lysosomal storage disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738920070011111

Human placental neuraminidase. Activation, stabilization and association with beta-galactosidase and its protective protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738920070011111

Mucolipidosis IV, a sialolipidosis due to ganglioside sialidase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738920070011111

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%2F08830738920070011111

10.1177/08830738920070011111

21 January 2018

Identifiers

DOI

1 reference

12 February 2018

PubMed ID

1588018

1 reference

12 February 2018