Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate. (Q45017396)

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English	Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.	scientific article

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Europe PubMed Central

PubMed publication ID

15309681

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15309681%20AND%20SRC:MED&resulttype=core&format=json

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31 December 2019

title

Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate (English)

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Europe PubMed Central

PubMed publication ID

15309681

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31 December 2019

author

Gabriela M Repetto

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9

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Europe PubMed Central

PubMed publication ID

15309681

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15309681%20AND%20SRC:MED&resulttype=core&format=json

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31 December 2019

Roberto Giugliani

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5

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Roberto Giugliani

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Europe PubMed Central

PubMed publication ID

15309681

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15309681%20AND%20SRC:MED&resulttype=core&format=json

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31 December 2019

author name string

Shunji Tomatsu

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1

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PubMed publication ID

15309681

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15309681%20AND%20SRC:MED&resulttype=core&format=json

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31 December 2019

Tatiana Dieter

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2

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PubMed publication ID

15309681

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31 December 2019

Ida V Schwartz

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3

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PubMed publication ID

15309681

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15309681%20AND%20SRC:MED&resulttype=core&format=json

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31 December 2019

Piedad Sarmient

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4

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PubMed publication ID

15309681

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31 December 2019

Luis A Barrera

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6

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15309681

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31 December 2019

Norberto Guelbert

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7

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15309681

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31 December 2019

Raquel Kremer

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8

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PubMed publication ID

15309681

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15309681%20AND%20SRC:MED&resulttype=core&format=json

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31 December 2019

Monica A Gutierrez

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10

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15309681

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15309681%20AND%20SRC:MED&resulttype=core&format=json

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31 December 2019

Tatsuo Nishioka

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11

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15309681

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31 December 2019

Olga Peña Serrato

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12

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PubMed publication ID

15309681

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15309681%20AND%20SRC:MED&resulttype=core&format=json

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31 December 2019

Adriana Maria Montaño

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13

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PubMed publication ID

15309681

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15309681%20AND%20SRC:MED&resulttype=core&format=json

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31 December 2019

Seiji Yamaguchi

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14

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PubMed publication ID

15309681

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15309681%20AND%20SRC:MED&resulttype=core&format=json

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31 December 2019

Akihiko Noguchi

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15

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PubMed publication ID

15309681

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31 December 2019

publication date

11 August 2004

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PubMed publication ID

15309681

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15309681%20AND%20SRC:MED&resulttype=core&format=json

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31 December 2019

published in

Journal of Human Genetics

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Europe PubMed Central

PubMed publication ID

15309681

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31 December 2019

volume

49

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Europe PubMed Central

PubMed publication ID

15309681

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31 December 2019

issue

9

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PubMed publication ID

15309681

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15309681%20AND%20SRC:MED&resulttype=core&format=json

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31 December 2019

page(s)

490-494

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PubMed publication ID

15309681

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31 December 2019

cites work

Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15309681

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15309681

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15309681

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15309681

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15309681

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15309681

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mucopolysaccharidosis IVA: polymorphic haplotypes and informative RFLPs in the Japanese population

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15309681

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fifteen polymorphisms in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene: diagnostic implications in Morquio disease

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15309681

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15309681

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15309681

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5'-flanking region

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15309681

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15309681

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15309681

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15309681

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15309681

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/S10038-004-0178-8

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15309681

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15309681%20AND%20SRC:MED&resulttype=core&format=json

retrieved

31 December 2019

Dimensions Publication ID

1005870007

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PubMed publication ID

15309681

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15309681

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15309681%20AND%20SRC:MED&resulttype=core&format=json

retrieved

31 December 2019

ResearchGate publication ID

8400960

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