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

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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publication date

19 November 2007

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Molecular Genetics and Metabolism

published in

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volume

93

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page(s)

104-111

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issue

2

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

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Identifiers

DOI

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5 March 2018

PubMed ID

18024218

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5 March 2018