Literature DB >> 15083297

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

Elles G Berger-Plantinga, Jan A L Vanneste, Johanna E M Groener, Mary J van Schooneveld.   

Abstract

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Year:  2004        PMID： 15083297     DOI： 10.1007/s00415-004-0368-5

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  16 in total

1.  Glucosamine amends CNS pathology in mucopolysaccharidosis IIIC mouse expressing misfolded HGSNAT.

Authors:  Xuefang Pan; Mahsa Taherzadeh; Poulomee Bose; Rachel Heon-Roberts; Annie L A Nguyen; TianMeng Xu; Camila Pará; Yojiro Yamanaka; David A Priestman; Frances M Platt; Shaukat Khan; Nidhi Fnu; Shunji Tomatsu; Carlos R Morales; Alexey V Pshezhetsky
Journal:  J Exp Med       Date:  2022-06-15       Impact factor: 17.579

2.  Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.

Authors:  Marlies J Valstar; Hennie T Bruggenwirth; Renske Olmer; Ron A Wevers; Frans W Verheijen; Ben J Poorthuis; Dicky J Halley; Frits A Wijburg
Journal:  J Inherit Metab Dis       Date:  2010-09-18       Impact factor: 4.982

Review 3.  Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults.

Authors:  F Sedel; N Baumann; J-C Turpin; O Lyon-Caen; J-M Saudubray; D Cohen
Journal:  J Inherit Metab Dis       Date:  2007-08-10       Impact factor: 4.982

Review 4.  Sanfilippo syndrome: a mini-review.

Authors:  M J Valstar; G J G Ruijter; O P van Diggelen; B J Poorthuis; F A Wijburg
Journal:  J Inherit Metab Dis       Date:  2008-04-04       Impact factor: 4.982

5.  Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome).

Authors:  Marlies J Valstar; Jan Pieter Marchal; Martha Grootenhuis; Vivian Colland; Frits A Wijburg
Journal:  Orphanet J Rare Dis       Date:  2011-06-20       Impact factor: 4.123

6.  Characterization of the arylsulfatase I (ARSI) gene preferentially expressed in the human retinal pigment epithelium cell line ARPE-19.

Authors:  Mio Oshikawa; Ron Usami; Seishi Kato
Journal:  Mol Vis       Date:  2009-03-06       Impact factor: 2.367

7.  Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).

Authors:  Lonneke Haer-Wigman; Hadas Newman; Rina Leibu; Nathalie M Bax; Hagit N Baris; Leah Rizel; Eyal Banin; Amir Massarweh; Susanne Roosing; Dirk J Lefeber; Marijke N Zonneveld-Vrieling; Ofer Isakov; Noam Shomron; Dror Sharon; Anneke I Den Hollander; Carel B Hoyng; Frans P M Cremers; Tamar Ben-Yosef
Journal:  Hum Mol Genet       Date:  2015-04-09       Impact factor: 6.150

8.  Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C.

Authors:  Matthew Feldhammer; Stéphanie Durand; Alexey V Pshezhetsky
Journal:  PLoS One       Date:  2009-10-13       Impact factor: 3.240

9.  The first Korean case of mucopolysaccharidosis IIIC (Sanfilippo syndrome type C) confirmed by biochemical and molecular investigation.

Authors:  Hee Jae Huh; Ja Young Seo; Sung Yoon Cho; Chang-Seok Ki; Soo-Youn Lee; Jong-Won Kim; Hyung-Doo Park; Dong-Kyu Jin
Journal:  Ann Lab Med       Date:  2012-12-17       Impact factor: 3.464

10.  Electrophysiological and Histological Characterization of Rod-Cone Retinal Degeneration and Microglia Activation in a Mouse Model of Mucopolysaccharidosis Type IIIB.

Authors:  Dennis Y Tse; Parisa Lotfi; David L Simons; Marco Sardiello; Samuel M Wu
Journal:  Sci Rep       Date:  2015-11-26       Impact factor: 4.379
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