(Q50335682)

5 March 2018

title

Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands (English)

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5 March 2018

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Ruijter GJ

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Valstar MJ

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van de Kamp JM

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5 March 2018

van der Helm RM

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Durand S

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van Diggelen OP

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Wevers RA

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5 March 2018

Poorthuis BJ

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Pshezhetsky AV

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Wijburg FA

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5 March 2018

publication date

19 November 2007

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5 March 2018

Molecular Genetics and Metabolism

published in

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5 March 2018

volume

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issue

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5 March 2018

page(s)

104-111

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5 March 2018

Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts

cites work

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

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Sanfilippo syndrome type A in two adult sibs

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The frequency of lysosomal storage diseases in The Netherlands.

7 January 2021

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Prevalence of lysosomal storage disorders

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Prevalence of lysosomal storage diseases in Portugal

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The first case of the Sanfilippo type C syndrome in Scandinavia

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Sanfilippo type C disease: Clinical findings in four patients with a new variant of mucopolysaccharidosis III

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Adult-onset dementia and retinitis pigmentosa due to mucopolysaccharidosis III-C in two sisters

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Sanfilippo syndrome type C: a clinicopathological autopsy study of a long-term survivor.

7 January 2021

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Mucopolysaccharidosis type IIIC (Sanfilippo): early clinical presentation in a large Turkish pedigree

7 January 2021

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Sanfilippo disease, type C: three cases in the same family

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Sanfilippo type C syndrome in two sisters

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Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C)

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.011

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)

7 January 2021

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Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online

7 January 2021

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A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease C (MPS III C)

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.011

Measurement of protein using bicinchoninic acid

7 January 2021

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Management of mucopolysaccharidosis type III.

7 January 2021

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Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8

7 January 2021

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10.1016/J.YMGME.2007.09.011

7 January 2021

Identifiers

DOI

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5 March 2018

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5 March 2018