A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome). (Q45863440)

17 December 2017

title

A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome). (English)

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17 December 2017

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Bhaumik M

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17 December 2017

Muller VJ

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17 December 2017

Rozaklis T

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17 December 2017

Johnson L

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17 December 2017

Dobrenis K

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17 December 2017

Bhattacharyya R

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17 December 2017

Wurzelmann S

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17 December 2017

Finamore P

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17 December 2017

Hopwood JJ

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17 December 2017

Walkley SU

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17 December 2017

Stanley P

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17 December 2017

publication date

1 December 1999

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17 December 2017

published in

Glycobiology

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17 December 2017

volume

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17 December 2017

issue

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17 December 2017

page(s)

1389-1396

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17 December 2017

Molecular defects in Sanfilippo syndrome type A

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

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Sulfamidase deficiency in a family of Dachshunds: a canine model of mucopolysaccharidosis IIIA (Sanfilippo A).

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Sanfilippo D syndrome: estimation of N-acetylglucosamine-6-sulfatase activity with a radiolabeled monosulfated disaccharide substrate

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α-l-Iduronidase, β-d-glucuronidase, and 2-sulfo-l-iduronate 2-sulfutase: preparation and characterization of radioactive substrates from heparin

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Diagnosis of Sanfilippo type A syndrome by estimation of sulfamidase activity using a radiolabelled tetrasaccharide substrate

21 January 2018

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The diagnosis of the Sanfilippo C syndrome, using monosaccharide and oligosaccharide substrates to assay acetyl-CoA: 2-amino-2-deoxy-alpha-glucoside N-acetyltransferase activity

21 January 2018

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GM2 ganglioside and pyramidal neuron dendritogenesis

21 January 2018

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

21 January 2018

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Novel mutations in Sanfilippo A syndrome: implications for enzyme function

21 January 2018

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The molecular basis of Sanfilippo syndrome type B

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/GLYCOB/9.12.1389

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17 December 2017

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17 December 2017