Literature DB >> 416825

The enzymic defect in Morquio's disease: the specificity of N-acetylhexosamine sulfatases.

A L Horwitz, A Dorfman.   

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Year:  1978        PMID: 416825     DOI: 10.1016/0006-291x(78)91318-9

Source DB:  PubMed          Journal:  Biochem Biophys Res Commun        ISSN: 0006-291X            Impact factor:   3.575


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  14 in total

1.  Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency.

Authors:  S Tomatsu; S Fukuda; A Yamagishi; A Cooper; J F Wraith; T Hori; Z Kato; N Yamada; K Isogai; K Sukegawa; N Kondo; Y Suzuki; N Shimozawa; T Orii
Journal:  Am J Hum Genet       Date:  1996-05       Impact factor: 11.025

2.  The mucopolysaccharidoses: biochemistry and clinical symptoms.

Authors:  H Kresse; M Cantz; K von Figura; J Glössl; E Paschke
Journal:  Klin Wochenschr       Date:  1981-08-17

3.  Purification and properties of N-acetylgalactosamine 6-sulphate sulphatase from human placenta.

Authors:  J Glössl; W Truppe; H Kresse
Journal:  Biochem J       Date:  1979-07-01       Impact factor: 3.857

4.  Genetic complementation studies of multiple sulfatase deficiency.

Authors:  A L Horwitz
Journal:  Proc Natl Acad Sci U S A       Date:  1979-12       Impact factor: 11.205

5.  Mucopolysaccharidosis IVA: structural gene alterations identified by Southern blot analysis and identification of racial differences.

Authors:  S Tomatsu; S Fukuda; A Cooper; J E Wraith; A Uchiyama; T Hori; Y Nakashima; N Yamada; K Sukegawa; N Kondo
Journal:  Hum Genet       Date:  1995-04       Impact factor: 4.132

6.  Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.

Authors:  S Fukuda; S Tomatsu; M Masue; K Sukegawa; H Iwata; T Ogawa; Y Nakashima; T Hori; A Yamagishi; Y Hanyu
Journal:  J Clin Invest       Date:  1992-09       Impact factor: 14.808

7.  Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases.

Authors:  H Groebe; M Krins; H Schmidberger; K von Figura; K Harzer; H Kresse; E Paschke; A Sewell; K Ullrich
Journal:  Am J Hum Genet       Date:  1980-03       Impact factor: 11.025

8.  Morquio's disease type A: absence of material cross reacting with antibodies against N-acetylgalactosamine-6-sulfate sulfatase.

Authors:  J Glössl; K Lembeck; G Gamse; H Kresse
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

9.  Mucopolysaccharidosis IVA: polymorphic haplotypes and informative RFLPs in the Japanese population.

Authors:  H Iwata; S Tomatsu; S Fukuda; A Uchiyama; G M Rezvi; T Ogawa; T Hori; Y Nakashima; A Yamagishi; K Sukegawa
Journal:  Hum Genet       Date:  1995-03       Impact factor: 4.132

10.  Impaired degradation of keratan sulphate by Morquio A fibroblasts.

Authors:  J Glössl; H Kresse
Journal:  Biochem J       Date:  1982-04-01       Impact factor: 3.857

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