A severe infantile sialidosis: clinical, biochemical, and microscopic features (Q71144793)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7359270%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

title

A severe infantile sialidosis: clinical, biochemical, and microscopic features (English)

1 reference

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16 October 2019

1 reference

A S Aylsworth

1 reference

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16 October 2019

G H Thomas

1 reference

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16 October 2019

J L Hood

1 reference

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16 October 2019

N Malouf

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16 October 2019

J Libert

1 reference

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16 October 2019

language of work or name

English

0 references

publication date

1 April 1980

1 reference

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The Journal of Pediatrics

16 October 2019

published in

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16 October 2019

volume

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16 October 2019

issue

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16 October 2019

page(s)

662-668

1 reference

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Mucolipidosis I: increased sialic acid content and deficiency of an alpha-N-acetylneuraminidase in cultured fibroblasts

16 October 2019

cites work

1 reference

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Mucolipidosis I — A sialidosis

7 January 2021

1 reference

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Isolated acid neuraminidase deficiency: A distinct lysosomal storage disease

7 January 2021

1 reference

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Neuraminidase deficiency in the cherry red spot-myoclonus syndrome

7 January 2021

1 reference

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The cherry-red spot-myoclonus syndrome

7 January 2021

1 reference

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The cherry red spot-myoclonus syndrome: a newly recognized inherited lysosomal storage disease due to acid neuraminidase deficiency

7 January 2021

1 reference

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2880%2980734-7

Analysis of N-acetyl- -D-glucosaminidase in mucolipidosis II (I-cell disease).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2880%2980734-7

Mucolipidosis 3 (pseudo-Hurler polydystrophy): cytological and ultrastructural observations of cultured fibroblast cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2880%2980734-7

Increased levels of sialic acid associated with a sialidase deficiency in I-cell disease (mucolipidosis II) fibroblasts

7 January 2021

1 reference

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The defect in Hurler's and Hunter's syndromes: faulty degradation of mucopolysaccharide

7 January 2021

1 reference

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Sialidase deficiency in adult-type neuronal storage disease

7 January 2021

1 reference

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A rapid and sensitive assay for neuraminidase: Application to cultured flbroblasts

7 January 2021

1 reference

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Molecular Basis of Proteinuria of Glomerular Origin

7 January 2021

1 reference

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7 January 2021

Glomerular Sialoprotein

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2880%2980734-7

Sialidase (alpha-n-acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry-red spots and myoclonus without dementia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2880%2980734-7

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0022-3476(80)80734-7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7359270%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7359270%20AND%20SRC:MED&resulttype=core&format=json