(Q70338524)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7076257%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

title

Human beta-galactosidase and alpha-neuraminidase deficient mucolipidosis: genetic complementation analysis of the neuraminidase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7076257%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

1 reference

O T Mueller

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7076257%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

T B Shows

series ordinal

2

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10 October 2019

publication date

1 January 1982

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10 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7076257%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

volume

60

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10 October 2019

page(s)

158-162

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10 October 2019

issue

2

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https://scigraph.springernature.com/pub.10.1007/bf00569704

10 October 2019

exact match

0 references

cites work

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The genetic defect in the various types of human beta-galactosidase deficiency

1 reference

12 December 2020

Adult type neuronal storage disease with neuraminidase deficiency

1 reference

12 December 2020

The complementation of β-galactosidase in fused cells of mucolipidosis II with another variants of β-galactosidase deficiency using new single cell enzyme assay

1 reference

12 December 2020

Sialidosis: a review of human neuraminidase deficiency

1 reference

12 December 2020

GM1-gangliosidosis: chromosome 3 assignment of the beta-galactosidase-A gene (beta GALA)

1 reference

12 December 2020

Macular cherry-red spot, corneal clouding, and beta-galactosidase deficiency. Clinical, biochemical, and electron microscopic study of a new autosomal recessive storage disease.

1 reference

12 December 2020

Human lysosomal genes: Arylsulfatase A and ?-Galactosidase

1 reference

12 December 2020

Complementation analysis of human sialidase deficiency using natural substrates

1 reference

12 December 2020

Synthesis of 2'-(4-methylumbelliferyl)-.alpha.-D-N-acetylneuraminic acid and detection of skin fibroblast neuraminidase in normal humans and in sialidosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular genetics of GM1 beta-galactosidase

1 reference

12 December 2020

Correction of human mucolipidosis II enzyme abnormalities in somatic cell hybrids

1 reference

12 December 2020

A new type of mucolipidosis with -galactosidase deficiency and glycopeptiduria

1 reference

12 December 2020

Hypersialyloligosacchariduria in mucolipidoses: a method for diagnosis

1 reference

12 December 2020

Atypical expression of ß-galactosidase deficiency in a child with Hurler-like features but without neurological abnormalities

1 reference

12 December 2020

Genetic heterogeneity in GM1-gangliosidosis

1 reference

12 December 2020

Neuraminidase deficiency in the original patient with the Goldberg Syndrome

1 reference

12 December 2020

Assignment of structural β-galactosidase loci to human chromosomes 3 and 22

1 reference

12 December 2020

Mucolipidosis I: Studies of sialidase activity and a prenatal diagnosis

1 reference

12 December 2020

Dimethyl sulfoxide enhances polyethylene glycol-mediated somatic cell fusion

1 reference

12 December 2020

Genetic heterogeneity in human neuraminidase deficiency.

1 reference

12 December 2020

Correction of I-cell defect by hybridization with lysosomal enzyme deficient human fibroblasts.

1 reference

12 December 2020

The mucolipidoses: identification by abnormal electrophoretic patterns of lysosomal hydrolases

1 reference

12 December 2020

Intergenic complementation after fusion of fibroblasts from different patients with β-galactosidase deficiency

1 reference

12 December 2020

Protein measurement with the Folin phenol reagent

1 reference

12 December 2020

The role of surface carbohydrates in the hepatic recognition and transport of circulating glycoproteins.

1 reference

12 December 2020

Binding of human liver beta-galactosidases to plant lectins insolubilized on agarose.

1 reference

12 December 2020

Genetic heterogeneity of I-cell disease is demonstrated by complementation of lysosomal enzyme processing mutants

1 reference

12 December 2020

Complementation of genetic disease: A velocity sedimentation procedure for the enrichment of heterokaryons

1 reference

12 December 2020

Beta-galactosidase deficient-type mucolipidosis: A complementation study of neuraminidase in somatic cell hybrids

1 reference

12 December 2020

Genetics of human-mouse somatic cell hybrids: linkage of human genes for lactate dehydrogenase-A and esterase-A 4

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00569704

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7076257%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

1 reference