Literature DB >> 7981693

New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P.

A Uchiyama1, S Tomatsu, N Kondo, Y Suzuki, N Shimozawa, S Fukuda, K Sukegawa, N Taki, H Inamori, T Orii.   

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Year:  1994        PMID： 7981693     DOI： 10.1093/hmg/3.7.1183

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


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  8 in total

Review 1.  Management of neuronopathic Gaucher disease: a European consensus.

Authors:  A Vellodi; B Bembi; T B de Villemeur; T Collin-Histed; A Erikson; E Mengel; A Rolfs; A Tylki-Szymanska
Journal:  J Inherit Metab Dis       Date:  2001-06       Impact factor: 4.982

2.  The studies on substrate, product and inhibitor binding to a wild-type and neuronopathic form of human acid-beta-glucosidase.

Authors:  Igor Z Zubrzycki; Agnieszka Borcz; Magdalena Wiacek; Wojciech Hagner
Journal:  J Mol Model       Date:  2007-08-23       Impact factor: 1.810

3.  A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders.

Authors:  Hamid Saranjam; Sameer S Chopra; Harvey Levy; Barbara K Stubblefield; Emerson Maniwang; Ian J Cohen; Hagit Baris; Ellen Sidransky; Nahid Tayebi
Journal:  Eur J Hum Genet       Date:  2012-06-20       Impact factor: 4.246

4.  Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.

Authors:  Chitra Ankleshwaria; Mehul Mistri; Ashish Bavdekar; Mamta Muranjan; Usha Dave; Parag Tamhankar; Varun Khanna; Eresha Jasinge; Sheela Nampoothiri; Suresh Edayankara Kadangot; Frenny Sheth; Sarita Gupta; Jayesh Sheth
Journal:  J Hum Genet       Date:  2014-02-13       Impact factor: 3.172

5.  Management of neuronopathic Gaucher disease: revised recommendations.

Authors:  A Vellodi; A Tylki-Szymanska; E H Davies; E Kolodny; B Bembi; T Collin-Histed; E Mengel; A Erikson; R Schiffmann
Journal:  J Inherit Metab Dis       Date:  2009-08-05       Impact factor: 4.982

6.  Splenomegaly, cardiomegaly, and osteoporosis in a child with Gaucher disease.

Authors:  J J Sheth; C M Ankleshwaria; M A Mistri; N Nanavaty; S J Mehta
Journal:  Case Rep Pediatr       Date:  2011-09-29

7.  Variants associated with Gaucher disease in multiple system atrophy.

Authors:  Jun Mitsui; Takashi Matsukawa; Hidenao Sasaki; Ichiro Yabe; Masaaki Matsushima; Alexandra Dürr; Alexis Brice; Hiroshi Takashima; Akio Kikuchi; Masashi Aoki; Hiroyuki Ishiura; Tsutomu Yasuda; Hidetoshi Date; Budrul Ahsan; Atsushi Iwata; Jun Goto; Yaeko Ichikawa; Yasuo Nakahara; Yoshio Momose; Yuji Takahashi; Kenju Hara; Akiyoshi Kakita; Mitsunori Yamada; Hitoshi Takahashi; Osamu Onodera; Masatoyo Nishizawa; Hirohisa Watanabe; Mizuki Ito; Gen Sobue; Kinya Ishikawa; Hidehiro Mizusawa; Kazuaki Kanai; Takamichi Hattori; Satoshi Kuwabara; Kimihito Arai; Shigeru Koyano; Yoshiyuki Kuroiwa; Kazuko Hasegawa; Tatsuhiko Yuasa; Kenichi Yasui; Kenji Nakashima; Hijiri Ito; Yuishin Izumi; Ryuji Kaji; Takeo Kato; Susumu Kusunoki; Yasushi Osaki; Masahiro Horiuchi; Tomoyoshi Kondo; Shigeo Murayama; Nobutaka Hattori; Mitsutoshi Yamamoto; Miho Murata; Wataru Satake; Tatsushi Toda; Alessandro Filla; Thomas Klockgether; Ullrich Wüllner; Garth Nicholson; Sid Gilman; Caroline M Tanner; Walter A Kukull; Mathew B Stern; Virginia M-Y Lee; John Q Trojanowski; Eliezer Masliah; Phillip A Low; Paola Sandroni; Laurie J Ozelius; Tatiana Foroud; Shoji Tsuji
Journal:  Ann Clin Transl Neurol       Date:  2015-02-28       Impact factor: 4.511

8.  Newborn screening for Gaucher disease in Japan.

Authors:  Takaaki Sawada; Jun Kido; Keishin Sugawara; Shinichiro Yoshida; Shirou Matsumoto; Tomoyuki Shimazu; Yuki Matsushita; Takahito Inoue; Shinichi Hirose; Fumio Endo; Kimitoshi Nakamura
Journal:  Mol Genet Metab Rep       Date:  2022-02-18
  8 in total

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