(Q33898281)

29 July 2017

1 reference

title

Sialidosis: a review of human neuraminidase deficiency (English)

1 reference

29 July 2017

1 reference

1 reference

O'Brien JS

2

1 reference

29 July 2017

J. A. Lowden

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A107795

25 April 2022

J. S. O'Brien

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A107795

25 April 2022

language of work or name

English

0 references

publication date

1 January 1979

1 reference

full work available at URL

29 July 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/107795/?tool=EBI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A107795

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/107795/pdf/?tool=EBI

25 April 2022

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A107795

https://europepmc.org/articles/PMC1685665

25 April 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A107795

https://europepmc.org/articles/PMC1685665?pdf=render

25 April 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A107795

American Journal of Human Genetics

25 April 2022

published in

1 reference

29 July 2017

31

1 reference

29 July 2017

1-18

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29 July 2017

1

1 reference

ON SOME ANOMALOUS FORMS OF AMAUROTIC IDIOCY AND THEIR BEARING ON THE RELATIONSHIP OF THE VARIOUS TYPES.

29 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685665

Typical ophthalmoscopic picture of "cherry-red spot" in an adult with the myoclonic syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685665

Studies on the soluble and lysosomal neuraminidases of rat liver.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685665

5 July 2018

Human brain sialidase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685665

Macular cherry-red spot, myoclonic epilepsy, and neurovisceral storage in a 17-year-old girl.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685665

I-cell disease: biochemical studies.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685665

A hypothesis for I-cell disease: defective hydrolases that do not enter lysosomes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685665

[Lipomucopolysaccharidosis, A new storage disease]

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685665

Pathological findings in one case of neuronal and mesenchymal storage disease. Its relationship to lipidoses and to mucopolysaccharidoses.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685665

Mucolipidosis 3 (Pseudo-Hurler polydystrophy): multiple lysosomal enzyme abnormalities in serum and cultured fibroblast cells.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685665

Late infantile systemic lipidosis. Major monosialogangliosidosis. Delineation of two types.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685665

Deficit in neuraminidase associated with mucolipidosis II (I-cell disease).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685665

Structure of nine sialyl-oligosaccharides accumulated in urine of eleven patients with three different types of sialidosis. Mucolipidosis II and two new types of mucolipidosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685665

Electrophoretic abnormalities of lysosomal enzymes in mucolipidosis fibroblast lines

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685665

Molecular genetics of GM1 beta-galactosidase

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685665

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685665

Isolated acid neuraminidase deficiency: A distinct lysosomal storage disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685665

Mucolipidosis I — A sialidosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685665

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685665

Macular cherry-red spots and beta-galactosidase deficiency in an adult. An autopsy case with progressive cerebellar ataxia, myoclonus, thrombocytopathy, and accumulation of polysaccharide in liver

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685665

Nature of the mutation in adult beta-galactosidase deficient patients

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685665

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685665

Membrane-bound neuraminidases of rat liver. Neuraminidase activity in Golgi apparatus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685665

Km values of influenza virus neuraminidases for a new fluorogenic substrate, 4-methylumbelliferone N-acetyl neuraminic acid ketoside

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685665

The cherry-red spot-myoclonus syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685665

Pigment Variant of Neuronal Ceroid-Lipofuscinosis (Kufs’ Disease)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685665

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685665

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685665

Altered serum α-D-mannosidase activity in mucolipidosis II and mucolipidosis III

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685665

A CASE OF JUVENILE LIPIDOSIS: THE SIGNIFICANCE OF ELECTRON MICROSCOPIC AND BIOCHEMICAL OBSERVATIONS OF A CEREBRAL BIOPSY.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685665

Neuronal lipidosis with visceral involvement in an adult

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685665

Digestive activity of lysosomes. II. The digestion of macromolecular carbohydrates by extracts of rat liver lysosomes.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685665

Endoglycosidases acting on carbohydrate moieties of glycoproteins: demonstration in mammalian tissue.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685665

Clinical, electroencephalographical and neuropharmacological studies in syndromes of progressive myoclonus epilepsy.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685665

Purification and properties of an endo-beta-N-acetylglucosaminidase from hen oviduct.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685665

Demonstration of neuraminidase activity in human blood serum and human milk using a modified, radioactively labelled alpha1-glycoprotein as substrate

29 October 2018

1 reference

12 December 2020

Acid hydrolase deficiencies and abnormal glycoproteins in mucolipidosis. 3 (pseudo-Hurler polydystrophy)

1 reference

12 December 2020

Ocular lesions related to disturbances in fat metabolism

1 reference

12 December 2020

Mycolonus epilepsy with cherry-red spot in adult: a peculiar form of mucopolysaccharidosis. (A clinical genetic, chemical and ultrastructural study)

1 reference

12 December 2020

Localized beta-galactosidase deficiency. Occurrence in cerebellar ataxia with myoclonus epilepsy and macular cherry-red spot--a new variant of GM1-gangliosidosis?

1 reference

12 December 2020

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

1 reference

12 December 2020

Hallervorden-Spatz disease associated with atypical amaurotic idiocy

1 reference

12 December 2020

Abnormal lysosomal hydrolases excreted by cultured fibroblasts in I-cell disease (mucolipidosis II)

1 reference

12 December 2020

Electrophysiological studies in two patients with cherry red spot--myoclonus syndrome

1 reference

12 December 2020

Localization of sialidase in the plasma membrane of rat liver cells

1 reference

12 December 2020

Sialidosis (mucolipidosis I)

1 reference

12 December 2020

A new type of mucolipidosis with -galactosidase deficiency and glycopeptiduria

1 reference

12 December 2020

Neuraminidase deficiency in the cherry red spot-myoclonus syndrome

1 reference

12 December 2020

Hypersialyloligosacchariduria in mucolipidoses: a method for diagnosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic heterogeneity in GM1-gangliosidosis

1 reference

12 December 2020

Studies on the pathogenetic mechanism of I-cell disease in cultured fibroblasts

1 reference

12 December 2020

Neuraminidase activity in human leukocytes

1 reference

12 December 2020

The genetic mucolipidoses. Diagnosis and differential diagnosis

1 reference

12 December 2020

A chromogenic substrate for the investigation of neuraminidases

1 reference

12 December 2020

On the lysosomal occurrence and the properties of the neuraminidase of rat liver and of Ehrlich ascites tumor cells

1 reference

12 December 2020

1 reference

12 December 2020

Letter: Angiokeratoma corporis diffusum and lysosomal enzyme deficiency

1 reference

12 December 2020

[2 siblings with mucolipidosis]

1 reference

12 December 2020

A case of amaurotic family idiocy with lipid storage disease of bone

1 reference

12 December 2020

Identifiers

PMCID

1685665

1 reference

29 July 2017

1 reference