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scholarly article
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author
Ron A. Wevers
object named as
R. Wevers
series ordinal
7
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author name string
B. Weber
series ordinal
1
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J. J. P. van de Kamp
series ordinal
2
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W. J. Kleijer
series ordinal
3
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X.-H. Guo
series ordinal
4
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L. Blanch
series ordinal
5
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O. P. van Diggelen
series ordinal
6
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B. J. H. M. Poorthuis
series ordinal
8
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J. J. Hopwood
series ordinal
9
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publication date
1998
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published in
Journal of Inherited Metabolic Disease
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volume
21
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issue
4
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page(s)
416-422
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exact match
https://scigraph.springernature.com/pub.10.1023/a:1005362826552
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cites work
Sanfilippo disease in Greece
1 reference
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https://api.crossref.org/works/10.1023%2FA%3A1005362826552
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7 January 2021
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Molecular defects in Sanfilippo syndrome type A
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https://api.crossref.org/works/10.1023%2FA%3A1005362826552
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7 January 2021
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Structure of a human lysosomal sulfatase
1 reference
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https://api.crossref.org/works/10.1023%2FA%3A1005362826552
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7 January 2021
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Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations
1 reference
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https://api.crossref.org/works/10.1023%2FA%3A1005362826552
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7 January 2021
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Structure and sequence of the human sulphamidase gene
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1023%2FA%3A1005362826552
retrieved
7 January 2021
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A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type A (MPS IIIA)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1023%2FA%3A1005362826552
retrieved
7 January 2021
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Prenatal diagnosis of Sanfilippo A syndrome: experience in 35 pregnancies at risk and the use of a new fluorogenic substrate for the heparin sulphamidase assay
1 reference
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reference URL
https://api.crossref.org/works/10.1023%2FA%3A1005362826552
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7 January 2021
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An update on the frequency of mucopolysaccharide syndromes in British Columbia
1 reference
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https://api.crossref.org/works/10.1023%2FA%3A1005362826552
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7 January 2021
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Human glucosamine-6-sulfatase cDNA reveals homology with steroid sulfatase
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1023%2FA%3A1005362826552
retrieved
7 January 2021
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A cDNA clone for human glucosamine-6-sulphatase reveals differences between arylsulphatases and non-arylsulphatases
1 reference
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reference URL
https://api.crossref.org/works/10.1023%2FA%3A1005362826552
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7 January 2021
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alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1023%2FA%3A1005362826552
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7 January 2021
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Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1023%2FA%3A1005362826552
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7 January 2021
based on heuristic
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Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1023%2FA%3A1005362826552
retrieved
7 January 2021
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Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1023%2FA%3A1005362826552
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Novel mutations in Sanfilippo A syndrome: implications for enzyme function
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1023%2FA%3A1005362826552
retrieved
7 January 2021
based on heuristic
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The laboratory diagnosis of sanfilippo disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1023%2FA%3A1005362826552
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The molecular basis of Sanfilippo syndrome type B
1 reference
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reference URL
https://api.crossref.org/works/10.1023%2FA%3A1005362826552
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7 January 2021
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Identifiers
DOI
10.1023/A:1005362826552
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Dimensions Publication ID
1019705078
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