Mucolipidosis type IV: Ganglioside sialidase deficiency (Q66979017)

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1 September 2019

title

Mucolipidosis type IV: ganglioside sialidase deficiency (English)

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1 September 2019

Mucolipidosis type IV: Ganglioside sialidase deficiency (English)

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https://api.crossref.org/works/10.1016/0006-291X(79)91183-5

21 June 2023

main subject

mucolipidosis type IV

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https://api.crossref.org/works/10.1016/0006-291X(79)91183-5

21 June 2023

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https://api.crossref.org/works/10.1016/0006-291X(79)91183-5

21 June 2023

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https://api.crossref.org/works/10.1016/0006-291X(79)91183-5

21 June 2023

author name string

G. Bach

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:518603

21 June 2023

M. Zeigler

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:518603

21 June 2023

T. Schaap

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:518603

21 June 2023

G. Kohn

4

1 reference

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21 June 2023

language of work or name

English

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publication date

1 October 1979

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1 September 2019

29 October 1979

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National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=518603

full work available at URL

21 June 2023

https://api.elsevier.com/content/article/PII:0006291X79911835?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/0006-291X(79)91183-5

https://api.elsevier.com/content/article/PII:0006291X79911835?httpAccept=text/plain

21 June 2023

1 reference

https://api.crossref.org/works/10.1016/0006-291X(79)91183-5

Biochemical and Biophysical Research Communications

21 June 2023

published in

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1 September 2019

volume

90

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1 September 2019

issue

4

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1 September 2019

page(s)

1341-1347

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Congenital corneal clouding with abnormal systemic storage bodies: A new variant of mucolipidosis

1 September 2019

cites work

1

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https://api.crossref.org/works/10.1016/0006-291X(79)91183-5

A New Mucolipidosis with Psychomotor Retardation, Corneal Clouding, and Retinal Degeneration

21 June 2023

5

1 reference

https://api.crossref.org/works/10.1016/0006-291X(79)91183-5

Mucolipidosis IV. Clinical, ultrastructural, histochemical, and chemical studies of a case, including a brain biopsy

21 June 2023

6

1 reference

https://api.crossref.org/works/10.1016/0006-291X(79)91183-5

Abnormal ganglioside accumulation in cultured fibroblasts from patients with mucolipidosis IV

21 June 2023

7

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https://api.crossref.org/works/10.1016/0006-291X(79)91183-5

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

21 June 2023

11

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https://api.crossref.org/works/10.1016/0006-291X(79)91183-5

Isolated acid neuraminidase deficiency: A distinct lysosomal storage disease

21 June 2023

12

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https://api.crossref.org/works/10.1016/0006-291X(79)91183-5

Isolation of rat liver plasma membranes. Use of nucleotide pyrophosphatase and phosphodiesterase I as marker enzymes

21 June 2023

14

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https://api.crossref.org/works/10.1016/0006-291X(79)91183-5

21 June 2023

Human brain sialidase

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https://api.crossref.org/works/10.1016/0006-291X(79)91183-5

Studies on brain cytosol neuraminadase. I. Isolation and partial characterization of two forms of the enzyme from pig brain

21 June 2023

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https://api.crossref.org/works/10.1016/0006-291X(79)91183-5

The purification and properties of a mammalian neuraminidase (sialidase)

21 June 2023

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https://api.crossref.org/works/10.1016/0006-291X(79)91183-5

Neuraminidase deficiency in the cherry red spot-myoclonus syndrome

21 June 2023

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https://api.crossref.org/works/10.1016/0006-291X(79)91183-5

The cherry-red spot-myoclonus syndrome

21 June 2023

21

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https://api.crossref.org/works/10.1016/0006-291X(79)91183-5

Oligosaccharide and Ganglioside Neuraminidase Activities of Mucolipidosis I (Sialidosis) and Mucolipidosis II (I-Cell Disease) Fibroblasts

21 June 2023

22

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https://api.crossref.org/works/10.1016/0006-291X(79)91183-5

21 June 2023

Identifiers

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:518603 AND SRC:MED&resulttype=core&format=json

1 September 2019

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