Literature DB >> 3118713

Follow-up on seven adult patients with mild Sanfilippo B-disease.

H M van Schrojenstein-de Valk1, J J van de Kamp.   

Abstract

This report describes 7 patients, aged 30 to 43 years, suffering from a mild variant of Sanfilippo B-disease. Somatic findings in these patients are unremarkable. Dementia and behavioral disturbances occurred late in the course of the disease. All 7 patients were examined 10 years previous to this study and reported in earlier publications [van de Kamp et al, 1976, 1981].

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Year:  1987        PMID： 3118713     DOI： 10.1002/ajmg.1320280118

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  11 in total

1.  Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase.

Authors:  H H Li; W H Yu; N Rozengurt; H Z Zhao; K M Lyons; S Anagnostaras; M S Fanselow; K Suzuki; M T Vanier; E F Neufeld
Journal:  Proc Natl Acad Sci U S A       Date:  1999-12-07       Impact factor: 11.205

Review 2.  Management of mucopolysaccharidosis type III.

Authors:  M A Cleary; J E Wraith
Journal:  Arch Dis Child       Date:  1993-09       Impact factor: 3.791

Review 3.  Behavioural phenotypes of the mucopolysaccharide disorders: a systematic literature review of cognitive, motor, social, linguistic and behavioural presentation in the MPS disorders.

Authors:  E M Cross; D J Hare
Journal:  J Inherit Metab Dis       Date:  2013-02-06       Impact factor: 4.982

4.  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 5.  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

6.  Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients.

Authors:  A Tessitore; G R Villani; C Di Domenico; M Filocamo; R Gatti; P Di Natale
Journal:  Hum Genet       Date:  2000-12       Impact factor: 4.132

7.  Genotype to Phenotype: Identification of Mucopolysaccharidosis Type IIIB (Sanfilippo's B) Case Using Whole Exome Sequencing.

Authors:  Muhsin Elmas; Basak Gogus; Furkan Kılıçarslan; Aysegul Bukulmez; Mustafa Solak
Journal:  J Pediatr Genet       Date:  2020-03-31

8.  An investigation of the middle and late behavioural phenotypes of Mucopolysaccharidosis Type-III.

Authors:  Elaine M Cross; Sheena Grant; Simon Jones; Brian W Bigger; James E Wraith; Louise V Mahon; Michelle Lomax; Dougal J Hare
Journal:  J Neurodev Disord       Date:  2014-12-31       Impact factor: 4.025

9.  Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III.

Authors:  Arunabha Ghosh; Elsa Shapiro; Stewart Rust; Kathleen Delaney; Samantha Parker; Adam J Shaywitz; Adelaida Morte; Gillian Bubb; Maureen Cleary; Tien Bo; Christine Lavery; Brian W Bigger; Simon A Jones
Journal:  Orphanet J Rare Dis       Date:  2017-06-26       Impact factor: 4.123

10.  Development of sensory, motor and behavioral deficits in the murine model of Sanfilippo syndrome type B.

Authors:  Coy D Heldermon; Anne K Hennig; Kevin K Ohlemiller; Judith M Ogilvie; Erik D Herzog; Annalisa Breidenbach; Carole Vogler; David F Wozniak; Mark S Sands
Journal:  PLoS One       Date:  2007-08-22       Impact factor: 3.240
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