Literature DB >> 6820446

Residual activity in fibroblasts from two brothers with the late-onset form of N-acetylgalactosamine-6-sulphate sulphatase deficiency.

K Sukegawa, T Orii.   

Abstract

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Year:  1982        PMID： 6820446     DOI： 10.1007/bf02179150

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


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  3 in total

1.  Morquio's syndrome: deficiency of a chondroitin sulfate N-acetylhexosamine sulfate sulfatase.

Authors:  R Matalon; B Arbogast; P Justice; I K Brandt; A Dorfman
Journal:  Biochem Biophys Res Commun       Date:  1974-11-27       Impact factor: 3.575

2.  A sensitive procedure for the diagnosis of N-acetyl-galactosamine-6-sulfate sulfatase deficiency in classical Morquio's disease.

Authors:  J Glössl; H Kresse
Journal:  Clin Chim Acta       Date:  1978-08-15       Impact factor: 3.786

3.  N-acetylgalactosamine-6-sulfate sulfatase in man. Absence of the enzyme in Morquio disease.

Authors:  J Singh; N Di Ferrante; P Niebes; D Tavella
Journal:  J Clin Invest       Date:  1976-04       Impact factor: 14.808
  3 in total
  8 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

Review 2.  Mucopolysaccharidosis IVA and glycosaminoglycans.

Authors:  Shaukat Khan; Carlos J Alméciga-Díaz; Kazuki Sawamoto; William G Mackenzie; Mary C Theroux; Christian Pizarro; Robert W Mason; Tadao Orii; Shunji Tomatsu
Journal:  Mol Genet Metab       Date:  2016-11-29       Impact factor: 4.797

3.  Activity of daily living for Morquio A syndrome.

Authors:  Eriko Yasuda; Yasuyuki Suzuki; Tsutomu Shimada; Kazuki Sawamoto; William G Mackenzie; Mary C Theroux; Christian Pizarro; Li Xie; Freeman Miller; Tariq Rahman; Heidi H Kecskemethy; Kyoko Nagao; Thierry Morlet; Thomas H Shaffer; Yasutsugu Chinen; Hiromasa Yabe; Akemi Tanaka; Haruo Shintaku; Kenji E Orii; Koji O Orii; Robert W Mason; Adriana M Montaño; Toshiyuki Fukao; Tadao Orii; Shunji Tomatsu
Journal:  Mol Genet Metab       Date:  2016-04-25       Impact factor: 4.797

4.  Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase.

Authors:  A M Montaño; K Sukegawa; Z Kato; R Carrozzo; P Di Natale; E Christensen; K O Orii; T Orii; N Kondo; S Tomatsu
Journal:  J Inherit Metab Dis       Date:  2007-09-17       Impact factor: 4.982

5.  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

6.  Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene.

Authors:  S Tomatsu; S Fukuda; A Cooper; J E Wraith; G M Rezvi; A Yamagishi; N Yamada; Z Kato; K Isogai; K Sukegawa
Journal:  Am J Hum Genet       Date:  1995-09       Impact factor: 11.025

Review 7.  Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA.

Authors:  C J Hendriksz; P Harmatz; M Beck; S Jones; T Wood; R Lachman; C G Gravance; T Orii; S Tomatsu
Journal:  Mol Genet Metab       Date:  2013-04-10       Impact factor: 4.797

8.  Current and emerging treatments and surgical interventions for Morquio A syndrome: a review.

Authors:  Shunji Tomatsu; William G Mackenzie; Mary C Theroux; Robert W Mason; Mihir M Thacker; Thomas H Shaffer; Adriana M Montaño; Daniel Rowan; William Sly; Carlos J Alméciga-Díaz; Luis A Barrera; Yasutsugu Chinen; Eriko Yasuda; Kristen Ruhnke; Yasuyuki Suzuki; Tadao Orii
Journal:  Res Rep Endocr Disord       Date:  2012-12
  8 in total

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