Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands (Q28279322)

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Language	Label	Description	Also known as
English	Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands	scientific article

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scholarly article

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Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands (English)

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9

object named as

J J Hopwood

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author name string

B Weber

1

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J J van de Kamp

2

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W J Kleijer

3

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X H Guo

4

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L Blanch

5

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O P van Diggelen

6

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R Wevers

7

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B J Poorthuis

8

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language of work or name

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publication date

June 1998

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Journal of Inherited Metabolic Disease

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21

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4

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416-22

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An update on the frequency of mucopolysaccharide syndromes in British Columbia

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https://pubmed.ncbi.nlm.nih.gov/9700599

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Sanfilippo disease in Greece

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https://pubmed.ncbi.nlm.nih.gov/9700599

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alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/9700599

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Molecular defects in Sanfilippo syndrome type A

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https://pubmed.ncbi.nlm.nih.gov/9700599

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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

https://pubmed.ncbi.nlm.nih.gov/9700599

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Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9700599

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Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)

1 reference

https://pubmed.ncbi.nlm.nih.gov/9700599

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Structure of a human lysosomal sulfatase

1 reference

https://pubmed.ncbi.nlm.nih.gov/9700599

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Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)

1 reference

https://pubmed.ncbi.nlm.nih.gov/9700599

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Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B)

1 reference

https://pubmed.ncbi.nlm.nih.gov/9700599

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The molecular basis of Sanfilippo syndrome type B

1 reference

https://pubmed.ncbi.nlm.nih.gov/9700599

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A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type A (MPS IIIA)

1 reference

https://pubmed.ncbi.nlm.nih.gov/9700599

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A cDNA clone for human glucosamine-6-sulphatase reveals differences between arylsulphatases and non-arylsulphatases

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The laboratory diagnosis of sanfilippo disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/9700599

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Novel mutations in Sanfilippo A syndrome: implications for enzyme function

1 reference

https://pubmed.ncbi.nlm.nih.gov/9700599

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Structure and sequence of the human sulphamidase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/9700599

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Human glucosamine-6-sulfatase cDNA reveals homology with steroid sulfatase

1 reference

https://pubmed.ncbi.nlm.nih.gov/9700599

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Lysosomal storage diseases in Greece

1 reference

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