Literature DB >> 825333

Clinical variability in Sanfilippo B disease: a report on six patients in two related sibships.

J J van de Kamp, J F van Pelt, K O Liem, M A Giesberts, L T Niepoth, C R Staalman.   

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Year:  1976        PMID： 825333     DOI： 10.1111/j.1399-0004.1976.tb00049.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  8 in total

1.  Biosynthesis and maturation of alpha-N-acetylglucosaminidase in normal and Sanfilippo B-fibroblasts.

Authors:  K von Figura; A Hasilik; F Steckel; J van de Kamp
Journal:  Am J Hum Genet       Date:  1984-01       Impact factor: 11.025

2.  Sanfilippo type C disease: clinical findings in four patients with a new variant of mucopolysaccharidosis III.

Authors:  C Bartsocas; H Gröbe; J J van de Kamp; K von Figura; H Kresse; U Klein; M A Giesberts
Journal:  Eur J Pediatr       Date:  1979-04-03       Impact factor: 3.183

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

5.  Sanfilippo B syndrome (MPS III B): case report with analysis of CSF mucopolysaccharides and conjunctival biopsy.

Authors:  A Federico; G Capece; A Cecio; N D'Auria; G Di Iorio; L Ronsisvalle; P Di Natale
Journal:  J Neurol       Date:  1981       Impact factor: 4.849

6.  Sanfilippo B disease: a re-examination of a particular sibship after 12 years.

Authors:  P Di Natale
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

7.  Bone marrow transplantation for Sanfilippo disease type B.

Authors:  A Vellodi; E Young; M New; C Pot-Mees; K Hugh-Jones
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

8.  Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB.

Authors:  O L M Meijer; L Welling; M J Valstar; L H Hoefsloot; H T Brüggenwirth; A T van der Ploeg; G J G Ruijter; T Wagemans; F A Wijburg; N van Vlies
Journal:  J Inherit Metab Dis       Date:  2016-02-23       Impact factor: 4.982
  8 in total

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