Literature DB >> 1779626

Molecular analysis of mucopolysaccharidosis type VII.

S Fukuda1, S Tomatsu, K Sukegawa, T Sasaki, Y Yamada, T Kuwahara, H Okamoto, Y Ikedo, S Yamaguchi, T Orii.   

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Year:  1991        PMID： 1779626     DOI： 10.1007/bf01799953

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  4 in total

1.  Molecular basis of mucopolysaccharidosis type VII: replacement of Ala619 in beta-glucuronidase with Val.

Authors:  S Tomatsu; K Sukegawa; Y Ikedo; S Fukuda; Y Yamada; T Sasaki; H Okamoto; T Kuwabara; T Orii
Journal:  Gene       Date:  1990-05-14       Impact factor: 3.688

2.  Cloning, sequencing, and expression of cDNA for human beta-glucuronidase.

Authors:  A Oshima; J W Kyle; R D Miller; J W Hoffmann; P P Powell; J H Grubb; W S Sly; M Tropak; K S Guise; R A Gravel
Journal:  Proc Natl Acad Sci U S A       Date:  1987-02       Impact factor: 11.205

3.  Quantitation and biosynthesis of beta-glucuronidase cross-reactive material in fibroblasts from patients with mucopolysaccharidosis VII.

Authors:  K Sukegawa; T Orii
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

4.  Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity.

Authors:  S Tomatsu; S Fukuda; K Sukegawa; Y Ikedo; S Yamada; Y Yamada; T Sasaki; H Okamoto; T Kuwahara; S Yamaguchi
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025
  4 in total
  4 in total

1.  Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII.

Authors:  Francyne Kubaski; Ana Carolina Brusius-Facchin; Robert W Mason; Pravin Patel; Maira G Burin; Kristiane Michelin-Tirelli; Rejane Gus Kessler; Fernanda Bender; Sandra Leistner-Segal; Carolina A Moreno; Denise P Cavalcanti; Roberto Giugliani; Shunji Tomatsu
Journal:  Prenat Diagn       Date:  2017-03-12       Impact factor: 3.050

Review 2.  Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).

Authors:  Shunji Tomatsu; Adriana M Montaño; Vu Chi Dung; Jeffrey H Grubb; William S Sly
Journal:  Hum Mutat       Date:  2009-04       Impact factor: 4.878

3.  Clinical course of sly syndrome (mucopolysaccharidosis type VII).

Authors:  Adriana M Montaño; Ngu Lock-Hock; Robert D Steiner; Brett H Graham; Marina Szlago; Robert Greenstein; Mercedes Pineda; Antonio Gonzalez-Meneses; Mahmut Çoker; Dennis Bartholomew; Mark S Sands; Raymond Wang; Roberto Giugliani; Alfons Macaya; Gregory Pastores; Anastasia K Ketko; Fatih Ezgü; Akemi Tanaka; Laila Arash; Michael Beck; Rena E Falk; Kaustuv Bhattacharya; José Franco; Klane K White; Grant A Mitchell; Loreta Cimbalistiene; Max Holtz; William S Sly
Journal:  J Med Genet       Date:  2016-02-23       Impact factor: 6.318

Review 4.  Epidemiology of Mucopolysaccharidoses Update.

Authors:  Betul Çelik; Saori C Tomatsu; Shunji Tomatsu; Shaukat A Khan
Journal:  Diagnostics (Basel)       Date:  2021-02-10
  4 in total

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