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Mucolipidosis II. The clinical, radiological and biochemical features in three cases
scientific article published on 01 August 1983
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
6137302
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6137302%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
title
Mucolipidosis II. The clinical, radiological and biochemical features in three cases
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
6137302
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6137302%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
main subject
genetics
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1983.TB02218.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1983.TB02218.X
retrieved
12 August 2023
author name string
D. T. Whelan
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
6137302
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6137302
retrieved
12 August 2023
P. L. Chang
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
6137302
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6137302
retrieved
12 August 2023
P. W. Cockshott
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
6137302
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6137302
retrieved
12 August 2023
language of work or name
English
1 reference
stated in
National Center for Biotechnology Information
PubMed publication ID
6137302
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=6137302
retrieved
12 August 2023
publication date
1 August 1983
1 reference
stated in
Europe PubMed Central
PubMed publication ID
6137302
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6137302%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
full work available at URL
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1399-0004.1983.tb02218.x
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1983.TB02218.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1983.TB02218.X
retrieved
12 August 2023
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1983.tb02218.x/fullpdf
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1983.TB02218.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1983.TB02218.X
retrieved
12 August 2023
published in
Clinical Genetics
1 reference
stated in
Europe PubMed Central
PubMed publication ID
6137302
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6137302%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
volume
24
1 reference
stated in
Europe PubMed Central
PubMed publication ID
6137302
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6137302%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
issue
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
6137302
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6137302%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
page(s)
90-96
1 reference
stated in
Europe PubMed Central
PubMed publication ID
6137302
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6137302%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
cites work
Differential assay of arylsulfatase A and B activities: A sensitive method for cultured human cells
series ordinal
2
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1983.TB02218.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1983.TB02218.X
retrieved
12 August 2023
Neonatal mucolipidosis II (I-cell disease): clinical, radiological and biochemical studies in a case
series ordinal
3
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1983.TB02218.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1983.TB02218.X
retrieved
12 August 2023
I-cell disease--mucolipidosis II.
series ordinal
5
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1983.TB02218.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1983.TB02218.X
retrieved
12 August 2023
Ultrastructure of Cultured Fibroblasts in I-Cell Disease
series ordinal
6
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1983.TB02218.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1983.TB02218.X
retrieved
12 August 2023
Enzymatic phosphorylation of lysosomal enzymes in the presence of UDP-N-acetylglucosamine. Absence of the activity in I-cell fibroblasts
series ordinal
7
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1983.TB02218.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1983.TB02218.X
retrieved
12 August 2023
A recognition marker required for uptake of a lysosomal enzyme by cultured fibroblasts
series ordinal
8
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1983.TB02218.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1983.TB02218.X
retrieved
12 August 2023
Radiological signs of mucolipidosis II or I-cell disease. A study of nine cases
series ordinal
10
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1983.TB02218.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1983.TB02218.X
retrieved
12 August 2023
Mutant enzymatic and cytological phenotypes in cultured human fibroblasts
series ordinal
11
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1983.TB02218.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1983.TB02218.X
retrieved
12 August 2023
I-cell disease: a clinical picture.
series ordinal
12
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1983.TB02218.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1983.TB02218.X
retrieved
12 August 2023
Serum β-hexosaminidases in pregnancy
series ordinal
13
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1983.TB02218.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1983.TB02218.X
retrieved
12 August 2023
Prenatal diagnosis of I-cell disease by measuring altered alpha-mannosidase activity in amniotic fluid
series ordinal
14
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1983.TB02218.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1983.TB02218.X
retrieved
12 August 2023
Neonatal mucolipidosis II (I-cell disease): clinical and radiologic features in three cases
series ordinal
15
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1983.TB02218.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1983.TB02218.X
retrieved
12 August 2023
Increased levels of sialic acid associated with a sialidase deficiency in I-cell disease (mucolipidosis II) fibroblasts
series ordinal
18
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1983.TB02218.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1983.TB02218.X
retrieved
12 August 2023
Clinical, biochemical, and ultrastructural studies in a case of chondrodystrophy presenting the I-cell phenotype in tissue culture.
series ordinal
19
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1983.TB02218.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1983.TB02218.X
retrieved
12 August 2023
Serum Hexosaminidase Content in I-Cell Disease
series ordinal
20
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1983.TB02218.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1983.TB02218.X
retrieved
12 August 2023
Abnormal lysosomal hydrolases excreted by cultured fibroblasts in I-cell disease (mucolipidosis II)
series ordinal
21
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1983.TB02218.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1983.TB02218.X
retrieved
12 August 2023
Identifiers
DOI
10.1111/J.1399-0004.1983.TB02218.X
1 reference
stated in
Europe PubMed Central
PubMed publication ID
6137302
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6137302%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
PubMed publication ID
6137302
1 reference
stated in
Europe PubMed Central
PubMed publication ID
6137302
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6137302%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
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