Literature DB >> 19389117

Sacral dimple: incidental findings from newborn evaluation. Mucopolysaccharidosis IVA disease.

Amiko Ohashi1, Adriana M Montaño, José E Colón, Toshihiro Oguma, Atchawee Luisiri, Shunji Tomatsu.   

Abstract

Entities:  

Mesh:

Year:  2009        PMID: 19389117     DOI: 10.1111/j.1651-2227.2009.01134.x

Source DB:  PubMed          Journal:  Acta Paediatr        ISSN: 0803-5253            Impact factor:   2.299


× No keyword cloud information.
  19 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.  Enzyme replacement therapy in newborn mucopolysaccharidosis IVA mice: early treatment rescues bone lesions?

Authors:  Shunji Tomatsu; Adriana M Montaño; Hirotaka Oikawa; Vu Chi Dung; Amiko Hashimoto; Toshihiro Oguma; Monica L Gutiérrez; Tatsuo Takahashi; Tsutomu Shimada; Tadao Orii; William S Sly
Journal:  Mol Genet Metab       Date:  2014-06-04       Impact factor: 4.797

3.  Obstructive airway in Morquio A syndrome, the past, the present and the future.

Authors:  Shunji Tomatsu; Lauren W Averill; Kazuki Sawamoto; William G Mackenzie; Michael B Bober; Christian Pizarro; Christopher J Goff; Li Xie; Tadao Orii; Mary Theroux
Journal:  Mol Genet Metab       Date:  2015-09-21       Impact factor: 4.797

Review 4.  Enzyme replacement therapy for mucopolysaccharidoses; past, present, and future.

Authors:  Hui Hsuan Chen; Kazuki Sawamoto; Robert W Mason; Hironori Kobayashi; Seiji Yamaguchi; Yasuyuki Suzuki; Kenji Orii; Tadao Orii; Shunji Tomatsu
Journal:  J Hum Genet       Date:  2019-08-27       Impact factor: 3.172

Review 5.  Therapies for the bone in mucopolysaccharidoses.

Authors:  Shunji Tomatsu; Carlos J Alméciga-Díaz; Adriana M Montaño; Hiromasa Yabe; Akemi Tanaka; Vu Chi Dung; Roberto Giugliani; Francyne Kubaski; Robert W Mason; Eriko Yasuda; Kazuki Sawamoto; William Mackenzie; Yasuyuki Suzuki; Kenji E Orii; Luis A Barrera; William S Sly; Tadao Orii
Journal:  Mol Genet Metab       Date:  2014-12-09       Impact factor: 4.797

6.  Effect of enzyme replacement therapy on the growth of patients with Morquio A.

Authors:  Caitlin Doherty; Molly Stapleton; Matthew Piechnik; Robert W Mason; William G Mackenzie; Seiji Yamaguchi; Hironori Kobayashi; Yasuyuki Suzuki; Shunji Tomatsu
Journal:  J Hum Genet       Date:  2019-04-24       Impact factor: 3.172

7.  Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry.

Authors:  Francyne Kubaski; Robert W Mason; Akiko Nakatomi; Haruo Shintaku; Li Xie; Naomi N van Vlies; Heather Church; Roberto Giugliani; Hironori Kobayashi; Seiji Yamaguchi; Yasuyuki Suzuki; Tadao Orii; Toshiyuki Fukao; Adriana M Montaño; Shunji Tomatsu
Journal:  J Inherit Metab Dis       Date:  2016-10-07       Impact factor: 4.982

8.  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

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.  Hematopoietic stem cell transplantation for Morquio A syndrome.

Authors:  Hiromasa Yabe; Akemi Tanaka; Yasutsugu Chinen; Shunichi Kato; Kazuki Sawamoto; Eriko Yasuda; Haruo Shintaku; Yasuyuki Suzuki; Tadao Orii; Shunji Tomatsu
Journal:  Mol Genet Metab       Date:  2015-10-01       Impact factor: 4.797

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.