(Q40656691)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6772024%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

title

Correction of I-cell defect by hybridization with lysosomal enzyme deficient human fibroblasts (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6772024%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

author name string

d'Azzo A

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6772024%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

Halley DJ

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6772024%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

Hoogeveen A

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6772024%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

Galjaard H

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6772024%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

language of work or name

English

0 references

publication date

1 July 1980

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6772024%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

19 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6772024%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

volume

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6772024%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6772024%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

page(s)

519-528

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6772024%20AND%20SRC:MED&resulttype=core&format=json

Protein measurement with the Folin phenol reagent

19 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686122

Tay-Sachs Disease: Generalized Absence of a Beta-D- N -Acetylhexosaminidase Component

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686122

Enveloped virus acquires membrane defect when passaged in fibroblasts from I-cell disease patients

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686122

Characterization of beta-D-galactosidase isolated from I-cell disease liver

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686122

Hexosaminidase isozyme in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease).

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686122

Phosphohexosyl components of a lysosomal enzyme are recognized by pinocytosis receptors on human fibroblasts

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686122

Sialidosis: a review of human neuraminidase deficiency

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686122

A two-year-old patient with an atypical expression of GM1-β-galactosidase deficiency: Biochemical, immunological, and cell genetic studies

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686122

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686122

Evidence that the mutant enzyme in fibroblasts of a patient with mannosidosis does not crossreact with antiserum raised against normal acidic α-D-mannosidase

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686122

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686122

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686122

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686122

Normal extracellular excretion of acidic α-mannosidase activity by mannosidosis fibroblast cultures

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686122

Cellular transport of lysosomal enzymes: an alternative hypothesis

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686122

Complementation studies with enucleated fibroblasts from different variants of β-galactosidase deficiency

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686122

I-cell disease: Isoelectric focusing, concanavalin asepharose 4B binding and kinetic properties of human lier acid β-d-galactosidases

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686122

A new variant mucolipidosis: Biochemical investigations on two siblings

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686122

I-cell disease: biochemical studies

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686122

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686122

I-cell disease: a clinical picture.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686122

GM1 ganglioside beta-galactosidase. A. Purification and studies of the enzyme from human liver

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686122

Mannosidosis in Angus cattle. The enzymic defect

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686122

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686122

Evidence for material from mannosidosis fibroblasts crossreacting with anti-acidic alpha-mannosidase antibodies

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686122

I-cell disease: intracellular desialylation of lysosomal enzymes using an influenza virus vector

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686122

Isolated acid neuraminidase deficiency: A distinct lysosomal storage disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686122

I-cell disease Desialylation of β-hexosaminidase and its effect on uptake by fibroblasts

17 June 2018

1 reference

12 December 2020

A recognition marker required for uptake of a lysosomal enzyme by cultured fibroblasts

1 reference

12 December 2020

Recognition and receptor-mediated uptake of a lysosomal enzyme, alpha-l-iduronidase, by cultured human fibroblasts

1 reference

12 December 2020

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

1 reference

12 December 2020

Human mannosidosis--the enzyme defect

1 reference

12 December 2020

Mutant enzymatic and cytological phenotypes in cultured human fibroblasts

1 reference

12 December 2020

Correction of human mucolipidosis II enzyme abnormalities in somatic cell hybrids

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

Residual altered alpha-mannosidase in human mannosidosis

1 reference

12 December 2020

Structure of the three major sialyl-oligosaccharides excreted in the urine of five patients with three distinct inborn diseases: "I cell disease" and two new types of mucolipidosis

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6772024%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

PubMed publication ID

6772024

1 reference