(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

1

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Valstar MJ

2

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van de Kamp JM

3

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van der Helm RM

4

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Durand S

5

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van Diggelen OP

6

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Wevers RA

7

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Poorthuis BJ

8

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Pshezhetsky AV

9

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Wijburg FA

10

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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

93

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5 March 2018

issue

2

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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

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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.

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

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

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

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

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Identifiers

DOI

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5 March 2018

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5 March 2018