Literature DB >> 7633425

Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients.

S Tomatsu1, S Fukuda, A Cooper, J E Wraith, G M Rezvi, A Yamagishi, N Yamada, Z Kato, K Isogai, K Sukegawa.   

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Year:  1995        PMID： 7633425     DOI： 10.1093/hmg/4.4.741

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  10 in total

Review 1.  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

2.  Epidemiology of mucopolysaccharidoses.

Authors:  Shaukat A Khan; Hira Peracha; Diana Ballhausen; Alfred Wiesbauer; Marianne Rohrbach; Matthias Gautschi; Robert W Mason; Roberto Giugliani; Yasuyuki Suzuki; Kenji E Orii; Tadao Orii; Shunji Tomatsu
Journal:  Mol Genet Metab       Date:  2017-05-26       Impact factor: 4.797

3.  Mucopolysaccharidosis IVA: a comparative study of polymorphic DNA haplotypes in the Caucasian and Japanese populations.

Authors:  G M Rezvi; S Tomatsu; S Fukuda; A Yamagishi; A Cooper; J E Wraith; H Iwata; Z Kato; N Yamada; K Sukegawa; N Shimozawa; Y Suzuki; N Kondo; T Orii
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

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 IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype.

Authors:  Adriana Maria Montaño; Ilkka Kaitila; Kazuko Sukegawa; Shunji Tomatsu; Zenichiro Kato; Haruki Nakamura; Seiji Fukuda; Tadao Orii; Naomi Kondo
Journal:  Hum Genet       Date:  2003-04-30       Impact factor: 4.132

6.  Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.

Authors:  Vũ Chí Dũng; Shunji Tomatsu; Adriana M Montaño; Gary Gottesman; Michael B Bober; William Mackenzie; Miho Maeda; Grant A Mitchell; Yasuyuki Suzuki; Tadao Orii
Journal:  Mol Genet Metab       Date:  2013-06-26       Impact factor: 4.797

7.  Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.

Authors:  A Morrone; K L Tylee; M Al-Sayed; A C Brusius-Facchin; A Caciotti; H J Church; M J Coll; K Davidson; M J Fietz; L Gort; M Hegde; F Kubaski; L Lacerda; F Laranjeira; S Leistner-Segal; S Mooney; S Pajares; L Pollard; I Ribeiro; R Y Wang; N Miller
Journal:  Mol Genet Metab       Date:  2014-03-20       Impact factor: 4.797

Review 8.  Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.

Authors:  Hira Peracha; Kazuki Sawamoto; Lauren Averill; Heidi Kecskemethy; Mary Theroux; Mihir Thacker; Kyoko Nagao; Christian Pizarro; William Mackenzie; Hironori Kobayashi; Seiji Yamaguchi; Yasuyuki Suzuki; Kenji Orii; Tadao Orii; Toshiyuki Fukao; Shunji Tomatsu
Journal:  Mol Genet Metab       Date:  2018-05-15       Impact factor: 4.797

Review 9.  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

10.  The structure of human GALNS reveals the molecular basis for mucopolysaccharidosis IV A.

Authors:  Yadilette Rivera-Colón; Emily K Schutsky; Adriana Z Kita; Scott C Garman
Journal:  J Mol Biol       Date:  2012-08-29       Impact factor: 5.469
  10 in total

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