Literature DB >> 6431819

Mild manifestations of the Morquio syndrome.

J T Hecht, C I Scott, T K Smith, J C Williams.   

Abstract

Mesh：

Year:  1984        PMID： 6431819     DOI： 10.1002/ajmg.1320180222

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  12 in total

1.  Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses.

Authors:  Nancy J Mendelsohn; Timothy Wood; Rebecca A Olson; Renee Temme; Susan Hale; Haoyue Zhang; Lisa Read; Klane K White
Journal:  JIMD Rep       Date:  2013-05-09

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.  Ocular histopathology and ultrastructure of Morquio syndrome (systemic mucopolysaccharidosis IV A).

Authors:  M Iwamoto; Y Nawa; I H Maumenee; J Young-Ramsaran; R Matalon; W R Green
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1990       Impact factor: 3.117

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

Review 6.  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

7.  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.  Progressive acetabular dysplasia in a boy with mucopolysaccharoidosis type IV A (Morquio syndrome): a case report.

Authors:  Ali Al Kaissi; Klaus Klaushofer; Franz Grill
Journal:  Cases J       Date:  2008-12-22

9.  Neurophysiology of hearing in patients with mucopolysaccharidosis type IV.

Authors:  Kyoko Nagao; Thierry Morlet; Elizabeth Haley; Jennifer Padilla; Julianne Nemith; Robert W Mason; Shunji Tomatsu
Journal:  Mol Genet Metab       Date:  2018-02-08       Impact factor: 4.204

10.  Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype.

Authors:  Albina Tummolo; Orazio Gabrielli; Alberto Gaeta; Maristella Masciopinto; Lucia Zampini; Luigi Michele Pavone; Paola Di Natale; Francesco Papadia
Journal:  Case Rep Med       Date:  2013-11-18
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