Literature DB >> 15235041

Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene.

S Tomatsu1, T Nishioka, A M Montaño, M A Gutierrez, O S Pena, K O Orii, W S Sly, S Yamaguchi, T Orii, E Paschke, S G Kircher, A Noguchi.   

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Year:  2004        PMID： 15235041      PMCID： PMC1735846          DOI： 10.1136/jmg.2003.018010

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  18 in total

1.  Oral immunotherapy tolerizes mice to enzyme replacement therapy for Morquio A syndrome.

Authors:  Angela C Sosa; Barbara Kariuki; Qi Gan; Alan P Knutsen; Clifford J Bellone; Miguel A Guzmán; Luis A Barrera; Shunji Tomatsu; Anil K Chauhan; Eric Armbrecht; Adriana M Montaño
Journal:  J Clin Invest       Date:  2020-03-02       Impact factor: 14.808

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.  Probability of high-risk genetic matching with oocyte and semen donors: complete gene analysis or genotyping test?

Authors:  Marta Molina Romero; Alberto Yoldi Chaure; Miguel Gañán Parra; Purificación Navas Bastida; José Luis Del Pico Sánchez; Ángel Vaquero Argüelles; Paloma de la Fuente Vaquero; Juan Pablo Ramírez López; José Antonio Castilla Alcalá
Journal:  J Assist Reprod Genet       Date:  2022-01-29       Impact factor: 3.412

4.  Case Report: Diagnosis of Mucopolysaccharidosis Type IVA With Compound Heterozygous Galactosamine-6 Sulfatase Variants and Biopsy of Replaced Femoral Heads.

Authors:  Yiyang Ma; Hao Peng; Fuchou Hsiang; Haoyu Fang; Dajiang Du; Chenyi Jiang; Yehui Wang; Chun Chen; Changqing Zhang; Yun Gao
Journal:  Front Pediatr       Date:  2022-07-04       Impact factor: 3.569

5.  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

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

9.  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.  Overcoming the barriers to diagnosis of Morquio A syndrome.

Authors:  Kaustuv Bhattacharya; Shanti Balasubramaniam; Yew Sing Choy; Michael Fietz; Antony Fu; Dong Kyu Jin; Ok-Hwa Kim; Motomichi Kosuga; Young Hee Kwun; Anita Inwood; Hsiang-Yu Lin; Jim McGill; Nancy J Mendelsohn; Torayuki Okuyama; Hasri Samion; Adeline Tan; Akemi Tanaka; Verasak Thamkunanon; Teck-Hock Toh; Albert D Yang; Shuan-Pei Lin
Journal:  Orphanet J Rare Dis       Date:  2014-11-30       Impact factor: 4.123
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