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Intrafamilial variability in fucosidosis
scientific article published on July 1, 1988
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
3409541
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3409541%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 September 2019
title
Intrafamilial variability in fucosidosis
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
3409541
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3409541%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 September 2019
main subject
genetics
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1988.TB02608.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1988.TB02608.X
retrieved
7 January 2023
author name string
P. J. Willems
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
3409541
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3409541
retrieved
7 January 2023
C. A. Garcia
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
3409541
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3409541
retrieved
7 January 2023
M. C. De Smedt
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
3409541
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3409541
retrieved
7 January 2023
R. Martin-Jimenez
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
3409541
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3409541
retrieved
7 January 2023
J. K. Darby
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
3409541
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3409541
retrieved
7 January 2023
D. A. Duenas
series ordinal
6
1 reference
stated in
Europe PubMed Central
PubMed publication ID
3409541
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3409541
retrieved
7 January 2023
D. Granado-Villar
series ordinal
7
1 reference
stated in
Europe PubMed Central
PubMed publication ID
3409541
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3409541
retrieved
7 January 2023
J. S. O'Brien
series ordinal
8
1 reference
stated in
Europe PubMed Central
PubMed publication ID
3409541
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3409541
retrieved
7 January 2023
language of work or name
English
1 reference
stated in
National Center for Biotechnology Information
PubMed publication ID
3409541
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=3409541
retrieved
7 January 2023
publication date
1 July 1988
1 reference
stated in
Europe PubMed Central
PubMed publication ID
3409541
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3409541%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 September 2019
full work available at URL
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1399-0004.1988.tb02608.x
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1988.TB02608.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1988.TB02608.X
retrieved
7 January 2023
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1988.tb02608.x/fullpdf
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1988.TB02608.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1988.TB02608.X
retrieved
7 January 2023
published in
Clinical Genetics
1 reference
stated in
Europe PubMed Central
PubMed publication ID
3409541
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3409541%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 September 2019
volume
34
1 reference
stated in
Europe PubMed Central
PubMed publication ID
3409541
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3409541%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 September 2019
issue
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
3409541
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3409541%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 September 2019
page(s)
7-14
1 reference
stated in
Europe PubMed Central
PubMed publication ID
3409541
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3409541%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 September 2019
cites work
Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship
series ordinal
1
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1988.TB02608.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1988.TB02608.X
retrieved
7 January 2023
Clinical and genetic variations in the syndrome of adult GM2 gangliodosis resulting from hexosaminidase a deficiency
series ordinal
2
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1988.TB02608.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1988.TB02608.X
retrieved
7 January 2023
Absence of alpha-fucosidase activity in two sisters showing a different phenotype
series ordinal
4
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1988.TB02608.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1988.TB02608.X
retrieved
7 January 2023
Pvu II RFLP at the human chromosome 1 alpha-L-fucosidase gene locus (FUCA1)
series ordinal
5
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1988.TB02608.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1988.TB02608.X
retrieved
7 January 2023
Human alpha-fucosidase. Single residual enzymatic form in fucosidosis
series ordinal
7
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1988.TB02608.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1988.TB02608.X
retrieved
7 January 2023
Detection of carriers and prenatal diagnosis for fucosidosis in Calabria
series ordinal
10
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1988.TB02608.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1988.TB02608.X
retrieved
7 January 2023
Linkage of plasma alpha-L-fucosidase (FUCA2) and the plasminogen (PLG) system
series ordinal
11
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1988.TB02608.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1988.TB02608.X
retrieved
7 January 2023
Letter: Genetic heterogeneity in fucosidosis
series ordinal
12
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1988.TB02608.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1988.TB02608.X
retrieved
7 January 2023
Letter: Genetic heterogeneity in fucosidosis.
series ordinal
13
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1988.TB02608.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1988.TB02608.X
retrieved
7 January 2023
Fucosidosis type 2
series ordinal
14
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1988.TB02608.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1988.TB02608.X
retrieved
7 January 2023
A family with different clinical forms of acid maltase deficiency (glycogenosis type II): biochemical and genetic studies
series ordinal
15
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1988.TB02608.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1988.TB02608.X
retrieved
7 January 2023
Mannosidosis: two brothers with different degrees of disease severity
series ordinal
16
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1988.TB02608.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1988.TB02608.X
retrieved
7 January 2023
Molecular biology of the alpha-L-fucosidase gene and fucosidosis
series ordinal
18
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1988.TB02608.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1988.TB02608.X
retrieved
7 January 2023
Deficiency of α-L-Fucosidase
series ordinal
19
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1988.TB02608.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1988.TB02608.X
retrieved
7 January 2023
Fucosidosis in Calabria: founder effect or high gene frequency
series ordinal
20
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1988.TB02608.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1988.TB02608.X
retrieved
7 January 2023
Clinical variability in Sanfilippo B disease: a report on six patients in two related sibships
series ordinal
21
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1988.TB02608.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1988.TB02608.X
retrieved
7 January 2023
Mucopolysaccharidosis by absence of alpha-fucosidase
series ordinal
24
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1988.TB02608.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1988.TB02608.X
retrieved
7 January 2023
Genetic defects in glycoprotein metabolism
series ordinal
25
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1988.TB02608.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1988.TB02608.X
retrieved
7 January 2023
Acute neuronopathic (infantile) and chronic nonneuronopathic (adult) Gaucher disease in full siblings
series ordinal
26
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1988.TB02608.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1988.TB02608.X
retrieved
7 January 2023
Identification of a mutation in the structural alpha-L-fucosidase gene in fucosidosis
series ordinal
27
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1988.TB02608.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1988.TB02608.X
retrieved
7 January 2023
pH-Dependent association-dissociation of high and low activity plasma a-l-fucosidase
series ordinal
28
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1988.TB02608.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1988.TB02608.X
retrieved
7 January 2023
Mild and severe Hunter syndrome (MPS II) within the same sibships
series ordinal
29
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1988.TB02608.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1988.TB02608.X
retrieved
7 January 2023
A clinical and genetic study of Hunter's syndrome. 1. Heterogeneity
series ordinal
30
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1988.TB02608.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1988.TB02608.X
retrieved
7 January 2023
Intrafamilial variability in lysosomal storage diseases
series ordinal
31
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1988.TB02608.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1988.TB02608.X
retrieved
7 January 2023
Krabbe disease: increased incidence in a highly inbred community
series ordinal
32
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1988.TB02608.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1988.TB02608.X
retrieved
7 January 2023
Identifiers
DOI
10.1111/J.1399-0004.1988.TB02608.X
1 reference
stated in
Europe PubMed Central
PubMed publication ID
3409541
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3409541%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 September 2019
PubMed publication ID
3409541
1 reference
stated in
Europe PubMed Central
PubMed publication ID
3409541
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3409541%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 September 2019
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