Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations (Q44519420)

3 December 2017

Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations (English)

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mucopolysaccharidosis type IIIA

3 December 2017

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Marlies J Valstar

1

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3 December 2017

Sanne Neijs

2

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3 December 2017

Hennie T Bruggenwirth

3

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3 December 2017

Renske Olmer

4

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3 December 2017

George J G Ruijter

5

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3 December 2017

Ron A Wevers

6

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3 December 2017

Otto P van Diggelen

7

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3 December 2017

Ben J Poorthuis

8

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3 December 2017

Dicky J Halley

9

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3 December 2017

Frits A Wijburg

10

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3 December 2017

language of work or name

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1 December 2010

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3 December 2017

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3 December 2017

68

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3 December 2017

6

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3 December 2017

876-887

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The frequency of lysosomal storage diseases in The Netherlands.

3 December 2017

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Prevalence of lysosomal storage disorders

21 January 2018

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Sanfilippo syndrome: a mini-review

21 January 2018

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Structure and sequence of the human sulphamidase gene

21 January 2018

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Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation

21 January 2018

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Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B

21 January 2018

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Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications

21 January 2018

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An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene.

21 January 2018

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The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).

21 January 2018

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New Dutch reference curves for birthweight by gestational age.

21 January 2018

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Novel mutations in Sanfilippo A syndrome: implications for enzyme function

21 January 2018

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Injection of recombinant human sulfamidase into the CSF via the cerebellomedullary cistern in MPS IIIA mice.

21 January 2018

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Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses

21 January 2018

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Gene therapy for mucopolysaccharidosis

21 January 2018

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Molecular defects in Sanfilippo syndrome type A

21 January 2018

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Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations

21 January 2018

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Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects

21 January 2018

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Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients

21 January 2018

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Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A

21 January 2018

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21 January 2018

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Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/ANA.22092

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3 December 2017

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