mps iiid
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Report of the first Brazilian patients with MPS IIID, with the observation of an unexpected increase of di-sulfated keratan sulfate

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2020.12.131 ◽

2021 ◽

Vol 132 (2) ◽

pp. S59

Author(s):

Francyne Kubaski ◽

Diego Miguel ◽

Carlos H.P. Grangeiro ◽

Diana R. Malaga ◽

Ana C. Brusius-Facchin ◽

...

Keyword(s):

Keratan Sulfate ◽

Mps Iiid

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Detection of N-Acetylglucosamine-6-Sulfatase (GNS) Gene Mutation Causing MPS IIID Genetic Disorder in Turkey Native Goats

Selcuk Journal of Agricultural and Food Sciences ◽

10.15316/sjafs.2017.23 ◽

2017 ◽

Vol 31 (2) ◽

pp. 82--85

Author(s):

Yasemin GEDİK ◽

Orhan KAVUNCU

Keyword(s):

Gene Mutation ◽

Genetic Disorder ◽

Mps Iiid

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Experiences from setting up a 5year longitudinal, prospective, natural history study of patients with Sanfilippo syndrome types C or D (MPS IIIC or MPS IIID)

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2014.12.154 ◽

2015 ◽

Vol 114 (2) ◽

pp. S72

Author(s):

Paul A. Levy ◽

Jill Wood

Keyword(s):

Natural History ◽

Sanfilippo Syndrome ◽

Natural History Study ◽

Mps Iiid

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0212 Two siblings with MPS IIID: Clinical follow-up and identification of a novel mutation in the GNS gene

Journal of the Neurological Sciences ◽

10.1016/s0022-510x(05)80584-2 ◽

2005 ◽

Vol 238 ◽

pp. S154

Keyword(s):

Novel Mutation ◽

Mps Iiid

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Recombinant lysosomal enzymes; MPS IIID; MPS VI; caprine N-acetylglucosamine- 6-sulfatase; human N-acetylgalactosamine-4-sulfatase; lysosomal storage diseases.

Journal of Molecular Neuroscience ◽

10.1385/jmn:11:3:233 ◽

1998 ◽

Vol 11 (3) ◽

pp. 233-242 ◽

Cited By ~ 11

Author(s):

N. Y. Walton ◽

A. K. Nagy ◽

D. M. Treiman

Keyword(s):

Lysosomal Enzymes ◽

Lysosomal Storage Diseases ◽

Lysosomal Storage ◽

Storage Diseases ◽

Mps Vi ◽

Mps Iiid

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NEURONAL STORAGE OF HEPARAN SULFATE AND GM2 GANGLIOSIDE IN HUMAN AND CAPRINE MPS IIID

Journal of Neuropathology & Experimental Neurology ◽

10.1097/00005072-199705000-00159 ◽

1997 ◽

Vol 56 (5) ◽

pp. 607

Author(s):

A Arias ◽

J Alroy ◽

E Skutelsky ◽

C Ianelli ◽

C Mitchell ◽

...

Keyword(s):

Heparan Sulfate ◽

Gm2 Ganglioside ◽

Mps Iiid

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A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type D (MPS IIID)

Journal of Inherited Metabolic Disease ◽

10.1007/bf00711508 ◽

1993 ◽

Vol 16 (6) ◽

pp. 935-941 ◽

Cited By ~ 31

Author(s):

Wang He ◽

Ya. V. Voznyi ◽

A. M. Boer ◽

W. J. Kleijer ◽

O. P. van Diggelen

Keyword(s):

Enzyme Assay ◽

Disease Type ◽

Type D ◽

Sanfilippo Disease ◽

Mps Iiid

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